NG_012130.1:g.(?_5165)_(7623_?)del AND Waardenburg syndrome type 2D

Clinical significance:Pathogenic (Last evaluated: Dec 1, 2002)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000007932.3

Allele description [Variation Report for NG_012130.1:g.(?_5165)_(7623_?)del]

NG_012130.1:g.(?_5165)_(7623_?)del

Gene:
SNAI2:snail family transcriptional repressor 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
8q11.21
Genomic location:
Preferred name:
NG_012130.1:g.(?_5165)_(7623_?)del
Other names:
SNAI2, DEL
HGVS:
  • NC_000008.11:g.(?_48918807)_(48921265_?)del
  • NG_012130.1:g.(?_5165)_(7623_?)del
  • NC_000008.10:g.(?_49831366)_(49833824_?)del
Nucleotide change:
DEL
Links:
OMIM: 602150.0001

Condition(s)

Name:
Waardenburg syndrome type 2D (WS2D)
Synonyms:
WAARDENBURG SYNDROME, TYPE IID
Identifiers:
MedGen: C1837203; Orphanet: 3440; OMIM: 608890

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000028137OMIMno assertion criteria providedPathogenic
(Dec 1, 2002)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

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

Citations

PubMed

SLUG (SNAI2) deletions in patients with Waardenburg disease.

Sánchez-Martín M, Rodríguez-García A, Pérez-Losada J, Sagrera A, Read AP, Sánchez-García I.

Hum Mol Genet. 2002 Dec 1;11(25):3231-6.

PubMed [citation]
PMID:
12444107

Details of each submission

From OMIM, SCV000028137.2

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

Description

In 2 of 38 unrelated patients with WS2D (608890) and no mutation in the MITF gene, Sanchez-Martin et al. (2002) detected homozygous deletion of the SNAI2 gene. One patient, born of nonconsanguineous, unaffected parents, had 4 unaffected sibs. The other patient was the only child of nonconsanguineous, unaffected parents.

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

Last Updated: Sep 5, 2017