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Mendeliome

Gene: SLC26A4

Green List (high evidence)

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

1 review

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

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.
Created: 6 Mar 2020, 3:39 a.m. | Last Modified: 6 Mar 2020, 3:39 a.m.
Panel Version: 0.1635

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 600791; Pendred syndrome 274600

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 600791
  • Pendred syndrome 274600
OMIM
605646
Clinvar variants
Variants in SLC26A4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc26a4 has been classified as Green List (High Evidence).

13 Apr 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC26A4 were changed from to Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 600791; Pendred syndrome 274600

13 Apr 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC26A4 were set to

13 Apr 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SLC26A4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC26A4 was added gene: SLC26A4 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SLC26A4 was set to Unknown