Hereditary ataxia with onset in adulthood
Gene: CAMTA1
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.
No SNVs reported - large deletions or duplications associated with phenotype in mulitple families; neurological phenotypes desribed as variableCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cerebellar ataxia with mental retardation, 614756
Added phenotypes Cerebellar ataxia with mental retardation, 614756 for gene: CAMTA1
Source NHS GMS was added to CAMTA1.
Source Wessex and West Midlands GLH was added to CAMTA1.
Checked panel against panel constituents. Ready to promote to version 1.
Phenotypes for gene: CAMTA1 were changed from Cerebellarataxia, nonprogressive, with mentalretardation, 614756 to Cerebellarataxia, nonprogressive, with mental retardation, 614756
Phenotypes for gene: CAMTA1 were changed from Cerebellarataxia,nonprogressive,withmentalretardation,614756 3 to Cerebellarataxia, nonprogressive, with mentalretardation, 614756
gene: CAMTA1 was added gene: CAMTA1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: CAMTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CAMTA1 were set to Cerebellarataxia,nonprogressive,withmentalretardation,614756 3