Hereditary ataxia with onset in adulthood
Gene: GLI3
This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels -Hereditary ataxia v1.148 - Brain channelopathy v1.46. This gene was RED and external expert review from Wessex and West Midlands GLH for GMS Neurology specialist test group for R54 agrees this gene should remain REDCreated: 19 Jun 2019, 4:58 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.
Looking at phenotypes list on OMIM I dont feel that this gene belongs on this panel - clear links to human disease thoughCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Greig syndrome, 175700, Pallister-Hall syndrome, 146510, Polydactyly types A1/B, 174200, Polydactyly type IV, 174700
Mode of inheritance for gene: GLI3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Greig syndrome, 175700; Pallister-Hall syndrome, 146510; Polydactyly type IV, 174700; Polydactyly types A1/B, 174200 for gene: GLI3
Source NHS GMS was added to GLI3.
gene: GLI3 was added gene: GLI3 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: GLI3 was set to