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Prepair 1000+

Gene: SLC26A4

Red List (low evidence)
SLC26A4 (solute carrier family 26 member 4)
EnsemblGeneIds (GRCh38): ENSG00000091137
EnsemblGeneIds (GRCh37): ENSG00000091137
OMIM: 605646, Gene2Phenotype
SLC26A4 is in 8 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Deafness genes are not currently part of the reproductive carrier screen.
Created: 28 Jul 2022, 8:23 a.m. | Last Modified: 28 Jul 2022, 8:23 a.m.
Panel Version: 0.92

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct (MIM#600791); Pendred syndrome (MIM#274600)

Created: 28 Jul 2022, 8:23 a.m.
Last Modified: 28 Jul 2022, 8:23 a.m.
Panel version: 0.92

Crystle Lee (Victorian Clinical Genetics Services)

I don't know

PDS and NSEVA are considered a disease spectrum and are distinguishable based on the presence of thyroid dysfunction in PDS (GeneReviews).

In relation to severity of hearing, there's no correlation between missense vs PTCs. There was great variation in hearing loss severity with the same mutations. Phenotype cannot be predicted from the genotype (PMID: 24599119)
Sources: Literature
Created: 26 Jul 2022, 3:16 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct (MIM#600791); Pendred syndrome (MIM#274600)

Publications

Created: 26 Jul 2022, 3:16 a.m.

Panel version: 0.85

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Deafness, autosomal recessive 4, with enlarged vestibular aqueduct (MIM#600791)
  • Pendred syndrome (MIM#274600)
OMIM
605646
Clinvar variants
Variants in SLC26A4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Jul 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc26a4 has been classified as Red List (Low Evidence).

28 Jul 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc26a4 has been classified as Red List (Low Evidence).

26 Jul 2022, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Crystle Lee (Victorian Clinical Genetics Services)

gene: SLC26A4 was added gene: SLC26A4 was added to Reproductive Carrier Screen_VCGS. Sources: Literature Mode of inheritance for gene: SLC26A4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC26A4 were set to 24599119 Phenotypes for gene: SLC26A4 were set to Deafness, autosomal recessive 4, with enlarged vestibular aqueduct (MIM#600791); Pendred syndrome (MIM#274600) Review for gene: SLC26A4 was set to AMBER