Hereditary ataxia

Gene: SNX14

Green List (high evidence)

SNX14 (sorting nexin 14)
EnsemblGeneIds (GRCh38): ENSG00000135317
EnsemblGeneIds (GRCh37): ENSG00000135317
OMIM: 616105, Gene2Phenotype
SNX14 is in 9 panels

2 reviews

emma baple (Genomics England Curator)

Comment when marking as ready: Good evidence
Created: 11 Jul 2016, 8:45 p.m.

Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

Green List (high evidence)

New gene. Good evidence for involvement, multiple families, characteristic phenotype
Created: 24 Nov 2015, 4:57 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Autosomal recessive spinocerebellar ataxia (#616354)

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Autosomal recessive spinocerebellar ataxia (#616354)
OMIM
616105
Clinvar variants
Variants in SNX14
Penetrance
Complete
Panels with this gene

History Filter Activity

11 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

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

11 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

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

24 Nov 2015, Gel status: 0

Added New Source

Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

SNX14 was added to Hereditary ataxiapanel. Sources: Expert Review

24 Nov 2015, Gel status: 0

Created

Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

SNX14 was created by jonathan.williams