Hereditary ataxia with onset in adulthood
Gene: TSEN54EnsemblGeneIds (GRCh38): ENSG00000182173
EnsemblGeneIds (GRCh37): ENSG00000182173
OMIM: 608755, Gene2Phenotype
TSEN54 is in 14 panels
2 reviews
Louise Daugherty (Genomics England Curator)
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.
Tracy Lester (Genetics laboratory, Oxford UK)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
- Hereditary ataxia v1.148
- Phenotypes
-
- Pontocerebellar hypoplasia type 2A, OMIM:277470
- Pontocerebellar hypoplasia type 4, OMIM:225753
- OMIM
- 608755
- Clinvar variants
- Variants in TSEN54
- Penetrance
- None
- Panels with this gene
-
- Intellectual disability
- Hereditary ataxia with onset in adulthood
- Rhabdomyolysis and metabolic muscle disorders
- Early onset or syndromic epilepsy
- Arthrogryposis
- Cerebellar hypoplasia
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia
- DDG2P
- Severe microcephaly
- Acute rhabdomyolysis
- Fetal anomalies
- Ataxia and cerebellar anomalies - narrow panel
- Adult onset neurodegenerative disorder
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)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
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Pontocerebellar hypoplasia 5, 610204; Pontocerebellar hypoplasia 2A, 277470; Pontocerebellar hypoplasia 4, 225753 for gene: TSEN54
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to TSEN54.
Added New Source
Louise Daugherty (Genomics England Curator)Source Wessex and West Midlands GLH was added to TSEN54.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked panel against panel constituents. Ready to promote to version 1.
Set Phenotypes
Louise Daugherty (Genomics England Curator)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
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)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)