Cerebellar hypoplasia
Gene: SNX14EnsemblGeneIds (GRCh38): ENSG00000135317
EnsemblGeneIds (GRCh37): ENSG00000135317
OMIM: 616105, Gene2Phenotype
SNX14 is in 9 panels
2 reviews
Ivone Leong (Genomics England Curator)
Comment on mode of inheritance: MOI changed from "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal" to "BIALLELIC, autosomal or pseudoautosomal". No evidence of monoallelic forms of the disease was found. MOI reported in OMIM and Gene2Phenotype is Biallelic.Created: 9 Aug 2021, 10 a.m. | Last Modified: 9 Aug 2021, 10 a.m.
Panel Version: 1.54
Alice Gardham (Genomics England)
on G2P: ID, MACROCEPHALY AND CEREBELLAR HYPOPLASIA
Unclear if predominantly cerebellar atrophy/hypoplasia. Childhood presentation reportedCreated: 14 Nov 2016, 4:44 p.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Spinocerebellar ataxia, autosomal recessive 20, 616354
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- UKGTN
- Phenotypes
-
- Spinocerebellar ataxia, autosomal recessive 20, 616354
- OMIM
- 616105
- Clinvar variants
- Variants in SNX14
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set mode of inheritance
Ivone Leong (Genomics England Curator)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
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)22/02/2017: Panel revised after internal clinical review and further curation.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Added New Source
Alice Gardham (Genomics England)SNX14 was added to Cerebellar hypoplasiapanel. Sources: Literature,UKGTN
Created
Alice Gardham (Genomics England)SNX14 was created by agardham