Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: SLC9A1

No list

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 (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: 13 Sep 2020, 6:33 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
Phenotypes
  • Lichtenstein-Knorr syndrome, MIM# 616291
OMIM
107310
Clinvar variants
Variants in SLC9A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Sep 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: SLC9A1 was added gene: SLC9A1 was added to Ataxia and cerebellar anomalies - narrow panel. 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