Hereditary ataxia with onset in adulthood
Gene: TSEN54
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.
Have considered all forms together and have not had the time to look into distinctions between them, plenty of families and variants in the literature across all three forms, ?just slight phenotypic variationCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia 5, 610204, Pontocerebellar hypoplasia 2A, 277470, Pontocerebellar hypoplasia 4, 225753
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: TSEN54 were changed from Pontocerebellar hypoplasia 5, 610204; Pontocerebellar hypoplasia 4, 225753; Pontocerebellar hypoplasia 2A, 277470; Pontocerebellar hypoplasia type 4, 225753; Pontocerebellar hypoplasia type 2A, 277470 to Pontocerebellar hypoplasia type 2A, OMIM:277470; Pontocerebellar hypoplasia type 4, OMIM:225753
Added phenotypes Pontocerebellar hypoplasia 5, 610204; Pontocerebellar hypoplasia 2A, 277470; Pontocerebellar hypoplasia 4, 225753 for gene: TSEN54
Source NHS GMS was added to TSEN54.
Source Wessex and West Midlands GLH was added to TSEN54.
Checked panel against panel constituents. Ready to promote to version 1.
Phenotypes for gene: TSEN54 were changed from Pontocerebellar hypoplasia 2A (#277470) and 4 (#225753) to Pontocerebellar hypoplasia type 2A, 277470; Pontocerebellar hypoplasia type 4, 225753
gene: TSEN54 was added gene: TSEN54 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: TSEN54 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSEN54 were set to Pontocerebellar hypoplasia 2A (#277470) and 4 (#225753)