Hereditary ataxia with onset in adulthood
Gene: GJC2
On Sheffield panel. Ataxia is a feature (OMIM and HPO). 57 DM on HGMD.Created: 27 Apr 2019, 7:39 p.m.
Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group
Created: 27 Apr 2019, 8:55 p.m.
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Multiple reports in the literature, both AR phenotypes listed on OMIM are associated with ataxiaCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypomyelinating leukodystrophy 2, 608804, Spastic paraplegia 44, 613206
Source London North GMS was added to GJC2.
Added phenotypes Spastic paraplegia 44, 613206; Hypomyelinating leukodystrophy 2, 608804 for gene: GJC2
Source NHS GMS was added to GJC2.
Source Wessex and West Midlands GLH was added to GJC2.
Checked panel against panel constituents. Ready to promote to version 1.
gene: GJC2 was added gene: GJC2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: GJC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GJC2 were set to Leukodystrophy, hypomyelinating, 2; Autosomal Recessive Ataxia