Hereditary ataxia with onset in adulthood
Gene: SLC9A1The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 9 Mar 2022, 5:26 p.m. | Last Modified: 9 Mar 2022, 5:26 p.m.
Panel Version: 2.144
The tag Q2_21_phenotype has been added to this gene, because variants in this gene are associated with childhood onset phenotype.Created: 26 May 2021, 11:58 a.m. | Last Modified: 26 May 2021, 11:58 a.m.
Panel Version: 2.70
Onset was in early childhood in the two families reported with molecularly confirmed diagnosis.Created: 13 Sep 2020, 6:37 a.m. | Last Modified: 13 Sep 2020, 6:37 a.m.
Panel Version: 2.9
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lichtenstein-Knorr syndrome, MIM# 616291
Publications
More than 3 families. Cerebellar ataxia and sensorineural deafness. Not on Ox or Shef.Created: 27 Apr 2019, 7:39 p.m.
As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene GreenCreated: 1 Aug 2019, 3:43 p.m. | Last Modified: 1 Aug 2019, 3:43 p.m.
Panel Version: 1.188
Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group
Created: 27 Apr 2019, 8:55 p.m.
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Looks like two families in the literature, one with a homozygous missense variant with limited functional evidence, the second with a homozygous truncating mutation but a somewhat disparate phenotype (limited to cerebellar ataxia only). Do not think sufficient evidence for Green at this timeCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lichtenstein-Knorr Syndrome
Tag Q2_21_phenotype was removed from gene: SLC9A1.
Source Expert Review Amber was added to SLC9A1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Tag Q2_21_phenotype tag was added to gene: SLC9A1.
Phenotypes for gene: SLC9A1 were changed from Lichtenstein-Knorr Syndrome to Lichtenstein-Knorr syndrome OMIM:616291; Lichtenstein-Knorr syndrome MONDO:0014572
Publications for gene: SLC9A1 were set to
Source Expert Review Green was added to SLC9A1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mode of inheritance for gene: SLC9A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: slc9a1 has been classified as Amber List (Moderate Evidence).
Source London North GMS was added to SLC9A1.
Added phenotypes Lichtenstein-Knorr Syndrome for gene: SLC9A1
Source NHS GMS was added to SLC9A1.
gene: SLC9A1 was added gene: SLC9A1 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: SLC9A1 was set to