Ataxia and cerebellar anomalies - narrow panel
Gene: SNX14EnsemblGeneIds (GRCh38): ENSG00000135317
EnsemblGeneIds (GRCh37): ENSG00000135317
OMIM: 616105, Gene2Phenotype
SNX14 is in 9 panels
2 reviews
Eleanor Williams (Genomics England Curator)
The 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
Ivone Leong (Genomics England Curator)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Autosomal recessive spinocerebellar ataxia (#616354)
- Spinocerebellar ataxia, autosomal recessive 20, 616354
- OMIM
- 616105
- Clinvar variants
- Variants in SNX14
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Eleanor Williams (Genomics England Curator)Tag Q3_21_MOI was removed from gene: SNX14.
Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)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
Added Tag
Ivone Leong (Genomics England Curator)Tag Q3_21_MOI tag was added to gene: SNX14.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1.
Set Phenotypes, Set publications
Ellen McDonagh (Genomics England Curator)Added phenotypes Spinocerebellar ataxia, autosomal recessive 20, 616354 for gene: SNX14 Publications for gene SNX14 were changed from to 25439728
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)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)