Ataxia - adult onset
Gene: TSEN54EnsemblGeneIds (GRCh38): ENSG00000182173
EnsemblGeneIds (GRCh37): ENSG00000182173
OMIM: 608755, Gene2Phenotype
TSEN54 is in 17 panels
2 reviews
Bryony Thompson (Royal Melbourne Hospital)
One family with adult-onset hereditary ataxia reported to segregate a heterozygous missense variant in this gene. Biallelic variants are associated with various forms of pontocerebellar hyploplasia where affected individuals do not live past childhood.
Sources: Expert listCreated: 17 Jan 2020, 12:53 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
adult-onset cerebellar ataxia
Publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Not convinced ataxia is a prominent feature; if one gene is included then all PCH genes potentially should be.
Sources: Expert listCreated: 27 Dec 2019, 3:40 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia type 2A, MIM#277470; Pontocerebellar hypoplasia type 4, MIM#225753
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert list
- Expert Review Red
- Expert list
- Phenotypes
-
- adult-onset cerebellar ataxia
- OMIM
- 608755
- Clinvar variants
- Variants in TSEN54
- Penetrance
- None
- Publications
- Panels with this gene
-
- Cerebellar and Pontocerebellar Hypoplasia
- Rhabdomyolysis and Metabolic Myopathy
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Microcephaly
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Regression
- Fetal anomalies
- Additional findings_Paediatric
- Ataxia - adult onset
- Arthrogryposis
- Mendeliome
- Prepair 500+
- Callosome
- Cerebral Palsy
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: TSEN54 was added gene: TSEN54 was added to Ataxia - adult onset_RMH. Sources: Expert list Mode of inheritance for gene: TSEN54 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TSEN54 were set to 24938831 Phenotypes for gene: TSEN54 were set to adult-onset cerebellar ataxia Review for gene: TSEN54 was set to RED