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Mendeliome

Gene: SLC26A5

Amber List (moderate evidence)

SLC26A5 (solute carrier family 26 member 5)
EnsemblGeneIds (GRCh38): ENSG00000170615
EnsemblGeneIds (GRCh37): ENSG00000170615
OMIM: 604943, Gene2Phenotype
SLC26A5 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Another publication identified, plus another individual with bi-allelic variants reported by a diagnostic laboratory. This gene-disease association is supported by mouse models, biochemical function studies and expression studies (12239568, 10821263, 11423665, 12719379, 18466744, 27091614, 17998209). Classified as LIMITED by ClinGen in 2017.
Created: 15 Dec 2021, 5:14 a.m. | Last Modified: 15 Dec 2021, 5:14 a.m.
Panel Version: 0.10248
Single family with compound het variants in this gene in a pair of sibs reported. Note an intronic variant in this gene previously implicated in deafness has been reclassified as likely benign due to high pop frequency (PMID:12719379).
Created: 1 Jan 2020, 5:09 a.m. | Last Modified: 1 Jan 2020, 5:09 a.m.
Panel Version: 0.520

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 61, MIM# 613865

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Deafness, autosomal recessive 61, MIM# 613865
OMIM
604943
Clinvar variants
Variants in SLC26A5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Dec 2021, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC26A5 were set to 24164807

15 Dec 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc26a5 has been classified as Amber List (Moderate Evidence).

1 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc26a5 has been classified as Red List (Low Evidence).

1 Jan 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC26A5 were changed from to Deafness, autosomal recessive 61, MIM# 613865

1 Jan 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC26A5 were set to

1 Jan 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SLC26A5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

1 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc26a5 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC26A5 was added gene: SLC26A5 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SLC26A5 was set to Unknown