Ataxia and cerebellar anomalies - narrow panel
Gene: SCYL1
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
Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least nine variants reported in at least seven cases.Created: 26 May 2021, 11:14 a.m. | Last Modified: 26 May 2021, 11:14 a.m.
Panel Version: 2.187
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 26 May 2021, 11:13 a.m. | Last Modified: 26 May 2021, 11:13 a.m.
Panel Version: 2.187
Early-onset ataxia (<1 year) with recurrent episodes of liver failure, sensory-motor axonal neuropathy, cerebellar atrophy. At least 7 unrelated families reported.
Sources: Expert listCreated: 12 Sep 2020, 7:59 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spinocerebellar ataxia, autosomal recessive 21, MIM# 616719
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag Q2_21_rating was removed from gene: SCYL1.
Source Expert Review Green was added to SCYL1. Source NHS GMS was added to SCYL1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q2_21_rating tag was added to gene: SCYL1.
Gene: scyl1 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: SCYL1 were changed from Spinocerebellar ataxia, autosomal recessive 21, MIM# 616719 to Spinocerebellar ataxia, autosomal recessive 21 OMIM:616719; acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome MONDO:0014744
gene: SCYL1 was added gene: SCYL1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list Mode of inheritance for gene: SCYL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCYL1 were set to 29419818; 17571074; 26581903; 30531813 Phenotypes for gene: SCYL1 were set to Spinocerebellar ataxia, autosomal recessive 21, MIM# 616719 Review for gene: SCYL1 was set to GREEN gene: SCYL1 was marked as current diagnostic