Ataxia and cerebellar anomalies - narrow panel
Gene: SQSTM1
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
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM but not Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.Created: 19 Apr 2021, 1:13 p.m. | Last Modified: 19 Apr 2021, 1:13 p.m.
Panel Version: 2.119
Four unrelated families, presenting feature of this progressive neurological disorder was ataxia.
Sources: Expert listCreated: 13 Sep 2020, 6:51 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, MIM# 617145
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag Q2_21_rating was removed from gene: SQSTM1.
Source Expert Review Green was added to SQSTM1. Source NHS GMS was added to SQSTM1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: sqstm1 has been classified as Amber List (Moderate Evidence).
Tag Q2_21_rating tag was added to gene: SQSTM1.
Publications for gene: SQSTM1 were set to 27545679
Phenotypes for gene: SQSTM1 were changed from Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, MIM# 617145 to Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, OMIM:617145
gene: SQSTM1 was added gene: SQSTM1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list Mode of inheritance for gene: SQSTM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SQSTM1 were set to 27545679 Phenotypes for gene: SQSTM1 were set to Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, MIM# 617145 Review for gene: SQSTM1 was set to GREEN gene: SQSTM1 was marked as current diagnostic