Hereditary ataxia with onset in adulthood
Gene: PACS2
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 individuals with de novo variant p.Glu209Lys reported in primary publication - as far as I can see no other pathogenic variants identifiedCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Early infantile epileptic encephalopathy 66, 618067
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Mode of inheritance for gene: PACS2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of inheritance for gene: PACS2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of pathogenicity for gene: PACS2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Gene: pacs2 has been classified as Green List (High Evidence).
Added phenotypes Early infantile epileptic encephalopathy 66, 618067 for gene: PACS2
Source NHS GMS was added to PACS2.
gene: PACS2 was added gene: PACS2 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: PACS2 was set to