Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: SNX14

Green List (high evidence)

SNX14 (sorting nexin 14)
EnsemblGeneIds (GRCh38): ENSG00000135317
EnsemblGeneIds (GRCh37): ENSG00000135317
OMIM: 616105, Gene2Phenotype
SNX14 is in 10 panels

1 review

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
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Autosomal recessive spinocerebellar ataxia (#616354)
  • Spinocerebellar ataxia, autosomal recessive 20, 616354
Tags
Q3_21_MOI
OMIM
616105
Clinvar variants
Variants in SNX14
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Aug 2021, Gel status: 3

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q3_21_MOI tag was added to gene: SNX14.

9 Jan 2019, Gel status: 4

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.

19 Dec 2018, Gel status: 4

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

19 Dec 2018, Gel status: 4

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)