Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Sephardic Jewish Population

Stephanie E Wallace; Ghayda M Mirzaa

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Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Sephardic Jewish Population

Stephanie E Wallace, MD and Ghayda M Mirzaa, MD.

Author Information and Affiliations

Initial Posting: January 12, 2023.

Estimated reading time: 14 minutes

A founder variant is a pathogenic variant observed at high frequency in a specific population due to the presence of the variant in a single ancestor or small number of ancestors. The presence of a founder variant can affect the approach to molecular genetic testing. When one or more founder variants account for a large percentage of all pathogenic variants found in a population, testing for the founder variant(s) may be performed first.

The table below includes common founder variants – here defined as three or fewer variants that account for >50% of the pathogenic variants identified in a single gene in individuals of a specific ancestry – in individuals of Sephardic Jewish ancestry. Note: Pathogenic variants that are common worldwide due to a DNA sequence hot spot are not considered founder variants and thus are not included.

Table.

Genetic Disorders Associated with Founder Variants Common in the Sephardic Jewish Population

Gene	Disorder	MOI	DNA Nucleotide Change (Alias ¹)	Predicted Protein Change (Alias ¹)	% of Pathogenic Variants in Gene ²	Carrier Frequency	Ethnicity (Specific Region)	Reference Sequences	References
ABCC2	Dubin Johnson syndrome (OMIM 237500)	AR	c.3449G>A	p.Arg1150His	~100% ³	1/57	Moroccan Jewish	NM_000392.5 NP_000383.2	Mor-Cohen et al [2001]
ABCC2	Dubin Johnson syndrome (OMIM 237500)	AR	c.3517A>T	p.Ile1173Phe	~100% ³	1/17	Iranian Jewish	NM_000392.5 NP_000383.2	Mor-Cohen et al [2001]
ABCD1	Adrenoleukodystrophy	XL	c.686T>C	p.Leu229Pro	<100%	NA	Moroccan Jewish	NM_000033.4 NP_000024.2	Neumann et al [2001], Zlotogora [2015]
ADA2	Adenosine deaminase 2 deficiency	AR	c.139G>A	p.Gly47Arg	~100% ³	1/10	Georgian Jewish	NM_001282225.2 NP_001269154.1	Hashem et al [2017]
ADAMTSL4	ADAMTSL4-related eye disorders	AR	c.2594G>A (2663G>A)	p.Arg865His (Arg888His)	~100% ³	1/48	Bukharan Jewish ⁴	NM_019032.6 NP_061905.2	Reinstein et al [2016]
AGL	Glycogen storage disease type III	AR	c.4456delT	p.Ser1486ProfsTer18	~100% ³	1/35	N African Jewish (Israel)	NM_000642.3 NP_000633.2	Parvari et al [1997]
AIPL1	Leber congenital amaurosis	AR	c.211G>T	p.Val71Phe	~100% ³	Unknown	N African Jewish	NM_014336.5 NP_055151.3	Zlotogora [2015]
AIRE	Polyglandular autoimmune syndrome type 1 (OMIM 240300)	AR	c.254A>G	p.Tyr85Cys	~100% ³	1/26	Iranian Jewish	NM_000383.4 NP_000374.1	Kaback et al [2010], Zlotogora [2015]
AMN	Imerslund-Gräsbeck syndrome type 2 (OMIM 618882)	AR	c.208-2A>G (IVS3-2A>G)	--	~100% ³	Unknown	Tunisian Jewish	NM_030943.4	Beech et al [2011], Zlotogora [2015]
ARSA	Arylsulfatase A deficiency	AR	c.1136C>T	p.Pro379Leu	~100% ³	1/6	Habbanite Jewish (Israel)	NM_000487.6 NP_000478.3	Zlotogora et al [1995], Zlotogora [2015]
ARSA	Arylsulfatase A deficiency	AR	c.1136C>T	p.Pro379Leu	~100% ³	1/46	Yemenite Jewish	NM_000487.6 NP_000478.3	Zlotogora et al [1995], Zlotogora [2015]
ASNS	Asparagine synthetase deficiency	AR	c.1084T>G	p.Phe362Val	~100% ³	1/80	Iranian Jewish	NM_133436.3 NP_597680.2	Radha Rama Devi & Naushad [2019]
ATM	Ataxia-telangiectasia	AR	c.103C>T	p.Arg35Ter	97%	1/81	Moroccan & Tunisian Jewish	NM_000051.4 NP_000042.3	Gilad et al [1996]
BCHE	Pseudocholinesterase deficiency (OMIM 617936)	AR	c.293A>G	p.Asp98Gly	~100% ³	1/8 to 1/10	Iranian & Iraqi Jewish	NM_000055.4 NP_000046.1	Kaback et al [2010]
BRCA1	Hereditary breast and ovarian cancer	AD	c.68_69delAG (185delAG)	p.Glu23ValfsTer17	<100% ⁵	NA	Iraqi Jewish	NM_007294.4 NP_009225.1	Bar-Sade et al [1997], Lerer et al [1998], Sagi et al [2011], Zlotogora [2015]
			c.2934T>G	p.Tyr978Ter			Iraqi & Iranian Jewish
			c.5123C>A	p.Ala1708Glu			Sephardic Jewish
BRCA2	Hereditary breast and ovarian cancer	AD	c.67+1G>A (IVS2+1G>A)	--	<100% ⁵	NA	Sephardic Jewish	NM_000059.4
BRCA2	Hereditary breast and ovarian cancer	AD	c.8537_8538delAG (8765delAG)	p.Glu2846GlyfsTer22	<100% ⁵	NA	Yemenite Jewish	NM_000059.4 NP_000050.3
C7	C7 deficiency (OMIM 610102)	AR	c.1135G>C	p.Gly357Arg	~100% ³	1/91	Moroccan Jewish	NM_000587.4 NP_000578.2	Halle et al [2001]
CD59	Hemolytic anemia (OMIM 612300)	AR	c.266G>A	p.Cys89Tyr	~100% ³	1/66	N African Jewish	NM_203330.2 NP_976075.1	Nevo et al [2013], Zlotogora [2015]
CERKL	Retinitis pigmentosa	AR	c.238+1G>A (IVS1+1G>A)	--	~100% ³	1/23	Yemenite Jewish	NM_001030311.3	Auslender et al [2007]
CFTR	Cystic fibrosis	AR	c.1075_1079delCAAACinsAAAAA	p.Gln359_Thr360delinsLysLys	70%	1/26	Georgian Jewish	NM_000492.4 NP_000483.3	Mei-Zahav et al [2018]
CTNS	Cystinosis	AR	c.1015G>A	p.Gly339Arg	83%	1/100	Moroccan Jewish	NM_004937.3 NP_004928.2	Zlotogora [2015]
CTSC	Haim-Munk syndrome (OMIM 245010)	AR	c.857A>G	p.Gln286Arg	~100% ³	Unknown	Cochin Jewish ⁶	NM_001814.6 NP_001805.4	Hart et al [2000]
CYBA	Chronic granulomatous disease	AR	c.171dupG	p.Lys58GlufsTer155	~100% ³	Unknown	Moroccan Jewish	NM_000101.4 NP_000092.2	Zlotogora [2015], Wolach et al [2017]
CYP11B1	Adrenal hyperplasia, 11-beta-hydroxylase deficiency (OMIM 202010)	AR	c.1343G>A	p.Arg448His	92%	1/30	Moroccan Jewish (Atlas Mountains)	NM_000497.4 NP_000488.3	White et al [1991], Zlotogora [2015]
CYP11B2	Congenital hypoaldosteronism type 2 (OMIM 610600)	AR	c.[541C>T;1157T>C] ⁷	p.[Arg181Trp;Val386Ala] ⁷	95%	1/25 to 1/30	Iranian Jewish	NM_000498.3 NP_000489.3	Leshinsky-Silver et al [2006], Kaback et al [2010]
CYP27A1	Cerebrotendinous xanthomatosis	AR	c.819delT	p.Asp273GlufsTer13	~50%	1/228	Moroccan Jewish	NM_000784.4 NP_000775.1	Leitersdorf et al [1993]
CYP27A1	Cerebrotendinous xanthomatosis	AR	c.845-1G>A (IVS4-1G>A)	--	~50%	1/114	Moroccan Jewish	NM_000784.4	Leitersdorf et al [1993]
DSG4	Monilethrix-like hypotrichosis (OMIM 607903)	AR	c.763delT	--	~50%	1/00	Iranian Jewish	NM_177986.5	Zlotogorski et al [2006]
			c.216+1G>T (IVS3+1G>T)	--	~50%	Unknown	Iranian Jewish	NM_177986.5
			c.800C>G	p.Pro267Arg	~100% ³	1/25	Iraqi Jewish	NM_177986.5 NP_817123.1
			c.865C>T	p.Arg289Ter	~100% ³	1/100	Moroccan Jewish	NM_177986.5 NP_817123.1
DYSF	Limb-girdle muscular dystrophy 2B (See Dysferlinopathy.)	AR	c.2779delG	p.Ala927LeufsTer21	~100% ³	1/50	Caucasian Jewish (Dagestan)	NM_003494.4 NP_003485.1	Leshinsky-Silver et al [2007]
DYSF	Limb-girdle muscular dystrophy 2B (See Dysferlinopathy.)	AR	c.4872delG (1624delG)	p.Glu1624AspfsTer10	~100% ³	1/10	Libyan Jewish	NM_003494.4 NP_003485.1	Argov et al [2000]
ERCC2	Xeroderma pigmentosum	AR	c.2047C>T	p.Arg683Trp	~100% ³	Unknown	Iraqi Jewish	NM_000400.4 NP_000391.1	Falik-Zaccai et al [2012]
EYS	Retinitis pigmentosa	AR	c.[403delA;406G>T;410_424del15] ⁸	p.Thr135LeufsTer25	~85%	1/94	Moroccan Jewish	NM_001142800.2 NP_001136272.1	Bandah-Rozenfeld et al [2010a], Zlotogora [2015]
F7	Factor VII deficiency (OMIM 227500)	AR	c.911C>T	p.Ala304Val (Ala244Val)	~100% ³	1/22 to 1/42	Moroccan Jewish	NM_000131.4 NP_000122.1	Tamary et al [1996], Zlotogora [2015]
F7	Factor VII deficiency (OMIM 227500)	AR	c.911C>T	p.Ala304Val (Ala244Val)	~100% ³	1/21	Iranian Jewish	NM_000131.4 NP_000122.1	Tamary et al [1996], Zlotogora [2015]
F11	Factor XI deficiency (OMIM 612416)	AR	c.403G>T	p.Glu135Ter (Glu117Ter)	~100% ³	1/30	Iraqi Jewish	NM_000128.4 NP_000119.1	Peretz et al [1997], Zlotogora [2015]
FAM161A	Retinitis pigmentosa	AR	c.1355_1356delCA	p.Thr452SerfsTer3	90%	1/32	N African Jewish	NM_001201543.2 NP_001188472.1	Bandah-Rozenfeld et al [2010b]
FANCA	Fanconi anemia	AR	c.891_893+1delCTGG	--	~100% ³	Unknown	Tunisian Jewish	NM_000135.4	Tamary et al [2000]
			c.2172dupG	p.Ser725ValfsTer69	77%	1/100	Moroccan Jewish	NM_000135.4 NP_000126.2
			c.4275delT	p.Asp1427ThrfsTer6	23%	Unknown	Moroccan Jewish	NM_000135.4 NP_000126.2
FH	FH tumor predisposition syndrome	AD	c.905-1G>A (IVS6-1G>A)	--	<100%	NA	Iranian Jewish	NM_000143.4	Chuang et al [2005]
G6PD	Glucose-6-phosphate dehydrogenase deficiency (OMIM 300908)	XL	c.563C>T	p.Ser188Phe	95%	NA	Kurdish Jewish	NM_001042351.3 NP_001035810.1	Oppenheim et al [1993]
G6PD	Glucose-6-phosphate dehydrogenase deficiency (OMIM 300908)	XL	c.563C>T	p.Ser188Phe	75%	NA	Iranian Jewish (Shiraz, Iran)	NM_001042351.3 NP_001035810.1	Karimi et al [2008]
GARS1	Distal spinal muscular atrophy (See GARS1-Associated Axonal Neuropathy.)	AD	c.1738G>C (c.2094G>C)	p.Gly580Arg (Gly526Arg)	<100%	NA	Algerian Jewish	NM_002047.4 NP_002038.2	Dubourg et al [2006]
GNE	Inclusion body myopathy	AR	c.2228T>C (2186T>C)	p.Met743Thr (Met712Thr)	~100% ³	1/11 to 1/15	Iranian Jewish	NM_001128227.3 NP_001121699.1	Kaback et al [2010], Zlotogora [2015]
GNE	Inclusion body myopathy	AR	c.2228T>C (2186T>C)	p.Met743Thr (Met712Thr)	~100% ³	1/47	Syrian Jewish	NM_001128227.3 NP_001121699.1	Zlotogora [2015], Zeevi et al [2021]
GNPTG	Mucolipidosis III gamma	AR	c.499dupC	p.Leu167ProfsTer32	~100% ³	Unknown	Tunisian Jewish	NM_032520.5 NP_115909.1	Raas-Rothschild et al [2004], Zlotogora [2015]
GUCY2D	Leber congenital amaurosis	AR	c.389delC	p.Pro130LeufsTer36	<100% ⁵	Unknown	N African Jewish	NM_000180.4 NP_000171.1	Perrault et al [1996], Zlotogora [2015]
HEXA	Tay-Sachs disease	AR	c.915_917delCTT	p.Phe305del	40%	1/60 to 1/110	Moroccan Jewish	NM_000520.6 NP_000511.2	Drucker et al [1992], Kaufman et al [1997], Zlotogora [2015]
			c.509G>A	p.Arg170Gln	35%			NM_000520.6 NP_000511.2
			c.571-2A>G (IVS5-2A>G)	--	10%			NM_000520.6
ITGB3	Glanzmann thrombasthenia type 2 (OMIM 619267)	AR	c.2031_2041del11	p.Asp677GlufsTer4	~100% ³	Unknown	Iraqi Jewish	NM_000212.3 NP_000203.2	Newman et al [1991], Zlotogora [2015]
LIPA	Lysosomal acid lipase deficiency	AR	c.260G>T	p.Gly87Val (Gly66Val)	98%	1/32	Iranian Jewish ⁹	NM_001127605.1 NP_001121077.1	Valles-Ayoub et al [2011]
LMAN1	Combined factor V and VIII deficiency (OMIM 227300)	AR	c.1149+2T>C (IVS9+2T>C)	--	~100% ³	1/47	Tunisian Jewish (Djerba Island)	NM_005570.4	Segal et al [2004]
LMAN1	Combined factor V and VIII deficiency (OMIM 227300)	AR	c.89dupG	p.Asp31ArgfsTer72	~100% ³	1/160 ¹⁰	Middle Eastern Jewish	NM_005570.4 NP_005561.1	Nichols et al [1998]
MED17	Postnatal progressive microcephaly with seizures and brain atrophy (OMIM 613668)	AR	c.1112T>C	p.Leu371Pro	~100% ³	1/20	Caucasian Jewish (Dagestan)	NM_004268.5 NP_004259.3	Kaufmann et al [2010]
MEFV	Familial Mediterranean fever	AR	c.2080A>G	p.Met694Val	70%-90%	1/5 to 1/7	N African Jewish	NM_000243.3 NP_000234.1	Aksentijevich et al [1999], Zlotogora [2015]
			c.2080A>G	p.Met694Val	40%	1/3 ¹¹	Iraqi & Kurdish Jewish		Aksentijevich et al [1999], Zlotogora [2015]
			c.2177T>C	p.Val726Ala	20%	1/3 ¹¹	Iraqi & Kurdish Jewish		Zlotogora [2015]
MLC1	Megalencephalic leukoencephalopathy with subcortical cysts	AR	c.176G>A	p.Gly59Glu	~100% ³	1/40	Libyan Jewish	NM_015166.4 NP_055981.1	Ben-Zeev et al [2002], Zlotogora [2015]
MTHFR	Methyltetrahydrofolate reductase deficiency (OMIM 236250)	AR	c.474A>T	See footnote 12.	<100% ⁵	1/39	Bukharan Jewish (Uzbekistan)	NM_005957.5	Ben-Shachar et al [2012]
NCF1	Chronic granulomatous disease	AR	c.579G>A	p.Trp193Ter	96%	1/23	Caucasian Jewish (Dagestan)	NM_000265.6 NP_000256.4	de Boer et al [2015]
NDUFS6	Mitochondrial complex I deficiency (OMIM 618232)	AR	c.344G>A	p.Cys115Tyr	~100% ³	1/24	Caucasian Jewish (Dagestan)	NM_004553.6 NP_004544.1	Spiegel et al [2009]
NR2E3	Retinitis pigmentosa	AR	c.932G>A	p.Arg311Gln	~100% ³	Unknown	Crypto-Jewish (Belmonte, Portugal)	NM_014249.4 NP_055064.1	Gerber et al [2000]
NTRK1	Congenital insensitivity to pain with anhidrosis	AR	c.207_208delTG	p.Glu70AlafsTer16	~100% ³	Unknown	Moroccan Jewish (Skoura, Morocco)	NM_002529.4 NP_002520.2	Suriu et al [2009]
OPA3	3-methylglutaconicaciduria type III (See Costeff Syndrome.)	AR	c.143-1G>C (IVS1-1G>C)	--	~100% ³	1/20 to 1/30	Iraqi Jewish (Israel)	NM_025136.4	Anikster et al [2001], Zlotogora [2015]
PAH	Phenylalanine hydroxylase deficiency	AR	c.533A>G	p.Glu178Gly	79%	Unknown	Bukharan & Caucasian Jewish	NM_000277.3 NP_000268.1	Bercovich et al [2008]
			c.842C>T	p.Pro281Leu	79%		Bukharan & Caucasian Jewish
			c.143T>C	p.Leu48Ser	80%		Tunisian Jewish
			6.7-kb del incl exon 3 ¹	--	~100% ³	1/36 ¹⁰	Yemenite Jewish (San'a, Yemen)	NG_008690.2	Avigad et al [1990], Bercovich et al [2008]
PERCC1	Congenital malabsorptive diarrhea (OMIM 251850)	AR	g.1425365_1432378del (7,013-bp del of ICR)	--	85%	Unknown	Iraqi Jewish	NC_000016.10	Oz-Levi et al [2019]
PERCC1	Congenital malabsorptive diarrhea (OMIM 251850)	AR	g.1430850_1433951del (3,101-bp del of ICR)	--	15%	Unknown	Iraqi Jewish	NC_000016.10	Oz-Levi et al [2019]
PRNP	Genetic prion disease	AD	c.598G>A	p.Glu200Lys	<100%	NA	Libyan Jewish & Tunisian Jewish (Djerba Island)	NM_000311.5 NP_000302.1	Zlotogora [2015]
PUS1	Mitochondrial myopathy and sideroblastic anemia (OMIM 600462)	AR	c.430C>T	p.Arg144Trp	~100% ³	Unknown	Iranian Jewish	NM_025215.6 NP_079491.2	Zlotogora [2015]
PYGM	Glycogen storage disease type V	AR	c.632delG	p.Ser211ThrfsTer84	~100% ³	Unknown	Caucasian Jewish (Dagestan)	NM_005609.4 NP_005600.1	Haimi Cohen et al [2012]
RAPSN	Congenital myasthenic syndrome	AR	c.-210A>G (-38A>G)	--	~100% ³	Unknown	Iraqi, Iranian, & Yemenite Jewish	NM_005055.5	Ohno et al [2003]
RPE65	Leber congenital amaurosis	AR	c.95-2A>T (IVS2-2A>T)	--	~100% ³	1/90	N African Jewish	NM_000329.3	Banin et al [2010]
SAMD9	Familial tumoral calcinosis (OMIM 610455)	AR	c.4483A>G	p.Lys1495Glu	~17%	1/154	Yemenite Jewish	NM_017654.4 NP_060124.2	Chefetz et al [2008], Zlotogora [2015]
SAMD9	Familial tumoral calcinosis (OMIM 610455)	AR	c.1030C>T	p.Arg344Ter	~83%	1/31	Yemenite Jewish	NM_017654.4 NP_060124.2	Chefetz et al [2008], Zlotogora [2015]
SEC23B	Congenital dyserthropoietic anemia type II (OMIM 224100)	AR	c.325G>A	p.Glu109Lys	95%	1/102	Moroccan Jewish	NM_006363.6 NP_006354.2	Amir et al [2011]
SEPSECS	Pontocerebellar hypoplasia type 2D (OMIM 613811)	AR	c.1001A>G	p.Tyr334Cys	~100% ³	1/42	Iraqi Jewish	NM_016955.4 NP_058651.3	Agamy et al [2010]
SEPSECS	Pontocerebellar hypoplasia type 2D (OMIM 613811)	AR	c.1001A>G	p.Tyr334Cys	~100% ³	1/44	Moroccan Jewish	NM_016955.4 NP_058651.3	Agamy et al [2010]
SLC7A9	Cystinuria (OMIM 220100)	AR	c.508G>A	p.Val170Met	94%	1/26	Libyan Jewish (Israel)	NM_014270.5 NP_055085.1	Colombo [2000], Lotan et al [2007]
SYNE4	Hereditary hearing loss and deafness	AR	c.228_229delAT	p.Trp77ValfsTer16	~100% ³	1/39	Iraqi Jewish	NM_001039876.3 NP_001034965.1	Horn et al [2013]
TECPR2	Hereditary spastic paraparesis	AR	c.3416delT	p.Leu1139ArgfsTer75	~100% ³	1/27	Bukharan Jewish	NM_014844.5 NP_055659.2	Oz-Levi et al [2012]
TMC1	Hereditary hearing loss and deafness	AR	c.1939T>C	p.Ser647Pro	~80%	1/18	Moroccan Jewish	NM_138691.3 NP_619636.2	Brownstein et al [2011]
TRMU	Acute infantile liver failure (See TRMU Deficiency.)	AR	c.229T>C	p.Tyr77His	75%	1/40	Yemenite Jewish	NM_018006.5 NP_060476.2	Zeharia et al [2009]
TYR	Oculocutaneous albinism type IA (OMIM 606952)	AR	c.140G>A	p.Gly47Asp	75%	1/30	Moroccan Jewish	NM_000372.5 NP_000363.1	Gershoni-Baruch et al [1994]
USH1C	Usher syndrome type I	AR	c.1220delG	p.Gly407GlufsTer58	~100% ³	1/119	Yemenite Jewish	NM_005709.3	Khateb et al [2012]
USH2A	Usher syndrome type II	AR	c.236_239dupGTAC	p.Gln81TyrfsTer28	<100% ⁵	1/53	Iraqi Jewish	NM_206933.4 NP_996816.3	Auslender et al [2008], Zlotogora [2015]
			c.236_239dupGTAC	p.Gln81TyrfsTer28		1/26	Iranian Jewish
			c.1000C>T	p.Arg334Trp		1/111	N African Jewish
			c.12067-2A>G (IVS61-2A>G)	--		Unknown	Bukharan Jewish	NM_206933.4
VPS13A	Chorea-acanthocytosis	AR	c.2343delA	p.Lys781AsnfsTer8	~100% ³	Unknown	Tunisian Jewish (Djerba Island)	NM_033305.3 NP_150648.2	Benninger et al [2016]
VPS53	Progressive cerebello-cerebral atrophy type 2 (OMIM 615851)	AR	c.2084A>G	p.Gln695Arg	50%	1/37	Moroccan Jewish	NM_001128159.3 NP_001121631.1	Feinstein et al [2014]
VPS53	Progressive cerebello-cerebral atrophy type 2 (OMIM 615851)	AR	c.1556+5G>A (IVS14+5G>A)	--	50%	1/37	Moroccan Jewish	NM_001128159.3 NP_001121631.1	Feinstein et al [2014]
ZNF469	Brittle cornea syndrome (OMIM 229200)	AR	c.6027delA (5943delA)	p.Gly2011AlafsTer16	~100% ³	Unknown	Tunisian Jewish	NM_001367624.2 NP_001354553.1	Romdhane et al [2012]

: Included if ≤3 pathogenic variants account for ≥50% of variants identified in a specific ethnic group
: AD = autosomal dominant; AR = autosomal recessive; ICR = intestine critical region; MOI = mode of inheritance; N = North; NA = not applicable; XL = X-linked
1.: Variant designation that does not conform to current naming conventions
2.: This percentage does not account for the possibility of rare de novo pathogenic variants occurring in this population.
3.: To date, additional pathogenic variants in this gene have not been reported in individuals of this ethnicity and/or from the specified region when indicated.
4.: Individuals of Bukharan Jewish ancestry originating from Kazakhstan and Tajikistan
5.: At least one additional pathogenic variant reported in this population in ≥1 family
6.: Individuals of Jewish ancestry from Cochin, India, most of whom immigrated to Israel
7.: The majority of affected individuals have been found to be homozygous for both variants listed (as this is a common haplotype); p.Val386Ala may not be disease causing.
8.: Affected individuals have been found to be homozygous for all variants listed resulting in the predicted protein change.
9.: Individuals of Iranian Jewish ancestry residing in Los Angeles, California
10.: Calculated carrier frequency is based on the incidence of the disorder in individuals of the specified ancestry; estimated carrier frequency is not based on molecular testing of the population.
11.: Carrier frequency in Iraqi Jewish individuals
12.: This substitution affects the nucleotide two base pairs upstream of the donor splice site of intron 3 and is known to cause abnormal splicing.

References

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Wallace SE, Mirzaa GM. Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Sephardic Jewish Population. 2023 Jan 12. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.
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