Cerebellar hypoplasia
Gene: SNX14Comment 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
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
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
22/02/2017: Panel revised after internal clinical review and further curation.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
SNX14 was added to Cerebellar hypoplasiapanel. Sources: Literature,UKGTN
SNX14 was created by agardham