Hereditary ataxia with onset in adulthood
Gene: PMPCA
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 families reported in the lit - all variants reported to date are missenseCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Autosomal recessive spinocerebellar ataxia 2, 213200
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Autosomal recessive spinocerebellar ataxia 2, 213200 for gene: PMPCA
Source NHS GMS was added to PMPCA.
Source Wessex and West Midlands GLH was added to PMPCA.
Checked panel against panel constituents. Ready to promote to version 1.
gene: PMPCA was added gene: PMPCA was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: PMPCA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PMPCA were set to 25808372 Phenotypes for gene: PMPCA were set to Non-progressive cerebellar ataxia recessive variants identified in 17 patients from four different families.