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NM_001042413.2(GLIS3):c.2338dup (p.Arg780fs) AND Neonatal diabetes mellitus with congenital hypothyroidism

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 1, 2006
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:
RCV000001388.4

Allele description [Variation Report for NM_001042413.2(GLIS3):c.2338dup (p.Arg780fs)]

NM_001042413.2(GLIS3):c.2338dup (p.Arg780fs)

Gene:
GLIS3:GLIS family zinc finger 3 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
9p24.2
Genomic location:
Preferred name:
NM_001042413.2(GLIS3):c.2338dup (p.Arg780fs)
HGVS:
  • NC_000009.12:g.3856148dup
  • NG_011782.2:g.448892dup
  • NM_001042413.2:c.2338dupMANE SELECT
  • NM_152629.4:c.1873dup
  • NP_001035878.1:p.Arg780fs
  • NP_689842.3:p.Arg625fs
  • NP_689842.3:p.Arg625fs
  • NC_000009.11:g.3856148dup
  • NM_152629.3:c.1873dup
Note:
NCBI staff reviewed the sequence information reported in PubMed 16715098 Supplementary Fig. 1 to determine the location of this allele on the current reference sequence.
Protein change:
R625fs
Links:
OMIM: 610192.0001; dbSNP: rs869320723
NCBI 1000 Genomes Browser:
rs869320723
Molecular consequence:
  • NM_001042413.2:c.2338dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_152629.4:c.1873dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Neonatal diabetes mellitus with congenital hypothyroidism
Synonyms:
NDH SYNDROME
Identifiers:
MONDO: MONDO:0012436; MedGen: C1857775; Orphanet: 79118; OMIM: 610199

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000021538OMIM
no assertion criteria provided
Pathogenic
(Jun 1, 2006) 		germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Neonatal diabetes mellitus, congenital hypothyroidism, hepatic fibrosis, polycystic kidneys, and congenital glaucoma: a new autosomal recessive syndrome?

Taha D, Barbar M, Kanaan H, Williamson Balfe J.

Am J Med Genet A. 2003 Oct 15;122A(3):269-73.

PubMed [citation]
PMID:
12966531

Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism.

Senée V, Chelala C, Duchatelet S, Feng D, Blanc H, Cossec JC, Charon C, Nicolino M, Boileau P, Cavener DR, Bougnères P, Taha D, Julier C.

Nat Genet. 2006 Jun;38(6):682-7. Epub 2006 May 21.

PubMed [citation]
PMID:
16715098

Details of each submission

From OMIM, SCV000021538.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In a consanguineous Saudi Arabian family with children affected with neonatal diabetes mellitus and congenital hypothyroidism (NDH; 610199), reported by Taha et al. (2003), Senee et al. (2006) described a homozygous 1-bp insertion, 2067insC, in the GLIS3 gene, predicted to lead to a frameshift and a truncated protein (625fs703Ter), altering the C-terminal proline-rich domain.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022