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

1 review

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

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), 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

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