Cerebral Palsy
Gene: SNX14EnsemblGeneIds (GRCh38): ENSG00000135317
EnsemblGeneIds (GRCh37): ENSG00000135317
OMIM: 616105, Gene2Phenotype
SNX14 is in 10 panels
1 review
Luisa Weiss (University of Adelaide)
One case in a large CP cohort study. In addition, one patient in a large cohort study on congenital ataxia, which can present as dystonic cerebral palsy.
Sources: LiteratureCreated: 31 Jul 2023, 5:47 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spinocerebellar ataxia, autosomal recessive 20 MIM#616354
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Spinocerebellar ataxia, autosomal recessive 20 MIM#616354
- OMIM
- 616105
- Clinvar variants
- Variants in SNX14
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: snx14 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: snx14 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Luisa Weiss (University of Adelaide)gene: SNX14 was added gene: SNX14 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: SNX14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SNX14 were set to 34540776; 29997391 Phenotypes for gene: SNX14 were set to Spinocerebellar ataxia, autosomal recessive 20 MIM#616354 Review for gene: SNX14 was set to AMBER