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Deafness_IsolatedAndComplex

Gene: SLC9A1

Amber List (moderate evidence)

SLC9A1 (solute carrier family 9 member A1)
EnsemblGeneIds (GRCh38): ENSG00000090020
EnsemblGeneIds (GRCh37): ENSG00000090020
OMIM: 107310, Gene2Phenotype
SLC9A1 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two families with bi-allelic variants in this gene reported and combination of deafness and ataxia.
Sources: Expert list
Created: 17 Apr 2020, 12:47 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lichtenstein-Knorr syndrome, MIM# 616291

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Lichtenstein-Knorr syndrome, MIM# 616291
OMIM
107310
Clinvar variants
Variants in SLC9A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc9a1 has been classified as Amber List (Moderate Evidence).

17 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc9a1 has been classified as Amber List (Moderate Evidence).

17 Apr 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC9A1 was added gene: SLC9A1 was added to Deafness. Sources: Expert list Mode of inheritance for gene: SLC9A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC9A1 were set to 25205112; 30018422; 25760855 Phenotypes for gene: SLC9A1 were set to Lichtenstein-Knorr syndrome, MIM# 616291 Review for gene: SLC9A1 was set to AMBER