Hereditary ataxia with onset in adulthood
Gene: PMPCB
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.
Four families reported in paper all homozygous or compound heterozygous for missense variants. Functional evidence provided using yeast expressionCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple mitochondrial dysfunctions syndrome 6, 617954
Phenotypes for gene: PMPCB were changed from Multiple mitochondrial dysfunctions syndrome 6, 617954 to Multiple mitochondrial dysfunctions syndrome 6 OMIM:617954; multiple mitochondrial dysfunctions syndrome 6 MONDO:0054785
Mode of inheritance for gene: PMPCB was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: pmpcb has been classified as Green List (High Evidence).
Added phenotypes Multiple mitochondrial dysfunctions syndrome 6, 617954 for gene: PMPCB
Source NHS GMS was added to PMPCB.
gene: PMPCB was added gene: PMPCB was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: PMPCB was set to