SLC26A4, 1-BP DEL, 1565G AND Pendred syndrome

delete

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 1, 1997
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:: RCV000005082.4

Allele description

SLC26A4, 1-BP DEL, 1565G

Gene:

SLC26A4:solute carrier family 26 member 4 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

7q31

Preferred name:

SLC26A4, 1-BP DEL, 1565G

HGVS:

Nucleotide change:

1-BP DEL, 1565G

Links:

OMIM: 605646.0002

Condition(s)

Name:: Pendred syndrome (PDS)
Synonyms:: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2B; THYROID DYSHORMONOGENESIS 2B; THYROID HORMONOGENESIS, GENETIC DEFECT IN, 2B; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010134; MedGen: C0271829; Orphanet: 705; OMIM: 274600

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000025258	OMIM	no assertion criteria provided	Pathogenic (Dec 1, 1997)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000025258

OMIM

no assertion criteria provided

Pathogenic
(Dec 1, 1997)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS).

Everett LA, Glaser B, Beck JC, Idol JR, Buchs A, Heyman M, Adawi F, Hazani E, Nassir E, Baxevanis AD, Sheffield VC, Green ED.

Nat Genet. 1997 Dec;17(4):411-22.

PubMed [citation]

PMID:: 9398842

Details of each submission

From OMIM, SCV000025258.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a family with Pendred syndrome (PDS; 274600), Everett et al. (1997) demonstrated that affected members had a homozygous deletion of a single G at position 1565 (1565delG) of the SLC26A4 gene, which was predicted to result either in a frameshift and premature termination of the pendrin protein or in aberrant splicing of the mRNA, or both. The deleted G is either part of or immediately adjacent to a splice donor site; thus, the precise effect of the mutation could not be predicted with certainty.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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