Ataxia and cerebellar anomalies - narrow panel
Gene: SNX14The mode of inheritance of this gene has been updated to BIALLELIC, autosomal or pseudoautosomal 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
Cannot find any evidence to support Monoallelic cause of disease. MOI reported in OMIM and Gene2Phenotype is Biallelic. The MOI should be changed from "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal" to "BIALLELIC, autosomal or pseudoautosomal".Created: 9 Aug 2021, 9:58 a.m. | Last Modified: 9 Aug 2021, 9:58 a.m.
Panel Version: 2.226
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Tag Q3_21_MOI was removed from gene: SNX14.
Source NHS GMS was added to SNX14. Mode of inheritance for gene SNX14 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Tag Q3_21_MOI tag was added to gene: SNX14.
Checked against super panel made up of the panel constituents. Ready to promote to version 1.
Added phenotypes Spinocerebellar ataxia, autosomal recessive 20, 616354 for gene: SNX14 Publications for gene SNX14 were changed from to 25439728
gene: SNX14 was added gene: SNX14 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: SNX14 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: SNX14 were set to Autosomal recessive spinocerebellar ataxia (#616354)