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  3. SLC33A1
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Deafness_IsolatedAndComplex

Gene: SLC33A1

Green List (high evidence)
SLC33A1 (solute carrier family 33 member 1)
EnsemblGeneIds (GRCh38): ENSG00000169359
EnsemblGeneIds (GRCh37): ENSG00000169359
OMIM: 603690, Gene2Phenotype
SLC33A1 is in 13 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple families reported. Deafness is part of the phenotype.
Sources: Expert Review
Created: 28 Oct 2024, 7:36 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital cataracts, hearing loss, and neurodegeneration, MIM# 614482

Publications

Created: 28 Oct 2024, 7:36 a.m.

Panel version: 1.202

History Filter Activity

28 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc33a1 has been classified as Green List (High Evidence).

28 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc33a1 has been classified as Green List (High Evidence).

28 Oct 2024, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC33A1 was added gene: SLC33A1 was added to Deafness_IsolatedAndComplex. Sources: Expert Review Mode of inheritance for gene: SLC33A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC33A1 were set to 31194315 Phenotypes for gene: SLC33A1 were set to Congenital cataracts, hearing loss, and neurodegeneration, MIM# 614482 Review for gene: SLC33A1 was set to GREEN