Cerebellar hypoplasia

Gene: SNX14

Green List (high evidence)

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

Green List (high evidence)

on G2P: ID, MACROCEPHALY AND CEREBELLAR HYPOPLASIA
Unclear if predominantly cerebellar atrophy/hypoplasia. Childhood presentation reported
Created: 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

History Filter Activity

9 Aug 2021, Gel status: 3

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

22 Feb 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

22/02/2017: Panel revised after internal clinical review and further curation.

14 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

14 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

14 Nov 2016, Gel status: 1

Added New Source

Alice Gardham (Genomics England)

SNX14 was added to Cerebellar hypoplasiapanel. Sources: Literature,UKGTN

14 Nov 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

SNX14 was created by agardham