Paediatric motor neuronopathies
Gene: EXOSC3EnsemblGeneIds (GRCh38): ENSG00000107371
EnsemblGeneIds (GRCh37): ENSG00000107371
OMIM: 606489, Gene2Phenotype
EXOSC3 is in 14 panels
2 reviews
Pinki Munot (Consultant )
several families reportedCreated: 2 Mar 2017, 4:08 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
congenital combined cerebellar and spinal motor neuron disease with imaging -pontocerebellar hypoplasia
Alice Gardham (Genomics England)
mutations found in at least nine families. Recognised on G2P. SMA is a feature of PCH type 1BCreated: 26 Jan 2017, 2:01 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia, type 1B 614678
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- UKGTN
- Phenotypes
-
- Pontocerebellar hypoplasia, type 1B, OMIM:614678
- OMIM
- 606489
- Clinvar variants
- Variants in EXOSC3
- Penetrance
- Complete
- Publications
- 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
Ivone Leong (Genomics England Curator)Phenotypes for gene: EXOSC3 were changed from Pontocerebellar hypoplasia, type 1B 614678 to Pontocerebellar hypoplasia, type 1B, OMIM:614678
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Gene panel promoted to v1 on 7 March 2017 following external review and internal curation
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Added New Source
Alice Gardham (Genomics England)EXOSC3 was added to Paediatric motor neuronopathiespanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN
Created
Alice Gardham (Genomics England)EXOSC3 was created by agardham