GRCh37/hg19 21q22.2-22.3(chr21:40364245-44169928)x1 AND not provided

delete

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 1, 2011
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000741567.2

Allele description

GRCh37/hg19 21q22.2-22.3(chr21:40364245-44169928)x1

Genes:

ABCG1:ATP binding cassette subfamily G member 1 [Gene - OMIM - HGNC]
C2CD2:C2 calcium dependent domain containing 2 [Gene - OMIM - HGNC]
DSCAM:DS cell adhesion molecule [Gene - OMIM - HGNC]
FAM3B:FAM3 metabolism regulating signaling molecule B [Gene - OMIM - HGNC]
MX1:MX dynamin like GTPase 1 [Gene - OMIM - HGNC]
MX2:MX dynamin like GTPase 2 [Gene - OMIM - HGNC]
PRDM15:PR/SET domain 15 [Gene - OMIM - HGNC]
PCP4:Purkinje cell protein 4 [Gene - OMIM - HGNC]
SH3BGR:SH3 domain binding glutamate rich protein [Gene - OMIM - HGNC]
B3GALT5:beta-1,3-galactosyltransferase 5 [Gene - OMIM - HGNC]
BACE2:beta-secretase 2 [Gene - OMIM - HGNC]
BRWD1:bromodomain and WD repeat domain containing 1 [Gene - OMIM - HGNC]
GET1:guided entry of tail-anchored proteins factor 1 [Gene - OMIM - HGNC]
HMGN1:high mobility group nucleosome binding domain 1 [Gene - OMIM - HGNC]
IGSF5:immunoglobulin superfamily member 5 [Gene - OMIM - HGNC]
LCA5L:lebercilin LCA5 like [Gene - HGNC]
PDE9A:phosphodiesterase 9A [Gene - OMIM - HGNC]
PLAC4:placenta enriched 4 [Gene - OMIM - HGNC]
PSMG1:proteasome assembly chaperone 1 [Gene - OMIM - HGNC]
RSPH1:radial spoke head component 1 [Gene - OMIM - HGNC]
RIPK4:receptor interacting serine/threonine kinase 4 [Gene - OMIM - HGNC]
SLC37A1:solute carrier family 37 member 1 [Gene - OMIM - HGNC]
TMPRSS2:transmembrane serine protease 2 [Gene - OMIM - HGNC]
TMPRSS3:transmembrane serine protease 3 [Gene - OMIM - HGNC]
TFF1:trefoil factor 1 [Gene - OMIM - HGNC]
TFF2:trefoil factor 2 [Gene - OMIM - HGNC]
TFF3:trefoil factor 3 [Gene - OMIM - HGNC]
UBASH3A:ubiquitin associated and SH3 domain containing A [Gene - OMIM - HGNC]
UMODL1:uromodulin like 1 [Gene - OMIM - HGNC]
ZBTB21:zinc finger and BTB domain containing 21 [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

21q22.2-22.3

Genomic location:

Chr21: 40364245 - 44169928 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 21q22.2-22.3(chr21:40364245-44169928)x1

HGVS:

NC_000021.8:g.(?_40364245)_(44169928_?)del

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

Recent activity

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GPI mannosyltransferase 4 isoform X2 [Vulpes vulpes]
GPI mannosyltransferase 4 isoform X2 [Vulpes vulpes]
gi|1435547628|ref|XP_025846072.1|

Protein
PREDICTED: Vulpes vulpes phosphatidylinositol glycan anchor biosynthesis class Z...
PREDICTED: Vulpes vulpes phosphatidylinositol glycan anchor biosynthesis class Z (PIGZ), transcript variant X3, mRNA
gi|1435547629|ref|XM_025990288.1|

Nucleotide
GPI mannosyltransferase 4 isoform X5 [Vulpes vulpes]
GPI mannosyltransferase 4 isoform X5 [Vulpes vulpes]
gi|1435547638|ref|XP_025846077.1|

Protein
Mus musculus myeloid nuclear differentiation antigen like (Mndal), transcript va...
Mus musculus myeloid nuclear differentiation antigen like (Mndal), transcript variant 2, mRNA
gi|1757649859|ref|NM_001374640.1|

Nucleotide
Mus musculus tropomodulin 3 (Tmod3) mRNA, complete cds
Mus musculus tropomodulin 3 (Tmod3) mRNA, complete cds
gi|6934245|gb|AF177172.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000869903	Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center	no assertion criteria provided	Pathogenic (Feb 1, 2011)	unknown	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000869903

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center

no assertion criteria provided

Pathogenic
(Feb 1, 2011)

unknown

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center, SCV000869903.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing (GTR000295241.2)	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	blood	not provided	(GTR000295241.2)	not provided	not provided	not provided	not provided

Last Updated: Mar 4, 2023

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