Hereditary ataxia with onset in adulthood
Gene: EXOSC3EnsemblGeneIds (GRCh38): ENSG00000107371
EnsemblGeneIds (GRCh37): ENSG00000107371
OMIM: 606489, Gene2Phenotype
EXOSC3 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)
Multiple reports in the literatureCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia type 1B, 614678
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 1B, OMIM:614678
- OMIM
- 606489
- Clinvar variants
- Variants in EXOSC3
- Penetrance
- None
- Panels with this gene
-
- Hereditary ataxia with onset in adulthood
- Childhood onset dystonia, chorea or related movement disorder
- Intellectual disability
- Hereditary neuropathy or pain disorder
- Cerebellar hypoplasia
- Paediatric motor neuronopathies
- Adult onset neurodegenerative disorder
- Hereditary ataxia
- Fetal anomalies
- DDG2P
- Ataxia and cerebellar anomalies - narrow panel
- Childhood onset hereditary spastic paraplegia
- Arthrogryposis
- Early onset or syndromic epilepsy
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: EXOSC3 were changed from Pontocerebellar hypoplasia type 1B, 614678; Pontocerebellar hypoplasia, type 1B, 614678 to Pontocerebellar hypoplasia, type 1B, OMIM:614678
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Pontocerebellar hypoplasia type 1B, 614678 for gene: EXOSC3
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to EXOSC3.
Added New Source
Louise Daugherty (Genomics England Curator)Source Wessex and West Midlands GLH was added to EXOSC3.
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: EXOSC3 were changed from to Pontocerebellar hypoplasia, type 1B, 614678
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: EXOSC3 was added gene: EXOSC3 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal