Genes in panel

Ataxia and cerebellar anomalies - narrow panel

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

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Based on GMS review of SLC9A1 on the Hereditary ataxia - adult onset panel.
Created: 26 May 2021, 12:04 p.m. | Last Modified: 26 May 2021, 12:04 p.m.
Panel Version: 2.190

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
  • Expert Review Amber
Phenotypes
  • Lichtenstein-Knorr syndrome OMIM:616291
  • Lichtenstein-Knorr syndrome MONDO:0014572
Tags
Q2_21_rating
OMIM
107310
Clinvar variants
Variants in SLC9A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 May 2021, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: SLC9A1.

26 May 2021, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

26 May 2021, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: SLC9A1 were changed from Lichtenstein-Knorr syndrome, MIM# 616291 to Lichtenstein-Knorr syndrome OMIM:616291; Lichtenstein-Knorr syndrome MONDO:0014572

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