Ataxia and cerebellar anomalies - narrow panel
Gene: SLC9A1
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 5 Feb 2023, 5:18 p.m. | Last Modified: 5 Feb 2023, 5:18 p.m.
Panel Version: 3.30
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
Two families with bi-allelic variants in this gene reported and combination of deafness and ataxia.
Sources: Expert listCreated: 13 Sep 2020, 6:33 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lichtenstein-Knorr syndrome, MIM# 616291
Publications
Tag Q2_21_rating was removed from gene: SLC9A1.
Source Expert Review Green was added to SLC9A1. Source NHS GMS was added to SLC9A1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q2_21_rating tag was added to gene: SLC9A1.
Gene: slc9a1 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: SLC9A1 were changed from Lichtenstein-Knorr syndrome, MIM# 616291 to Lichtenstein-Knorr syndrome OMIM:616291; Lichtenstein-Knorr syndrome MONDO:0014572
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