Cerebral Palsy
Gene: EXOSC3
EXOSC3 (exosome component 3)
EnsemblGeneIds (GRCh38): ENSG00000107371
EnsemblGeneIds (GRCh37): ENSG00000107371
OMIM: 606489, Gene2Phenotype
EXOSC3 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000107371
EnsemblGeneIds (GRCh37): ENSG00000107371
OMIM: 606489, Gene2Phenotype
EXOSC3 is in 17 panels
1 review
Luisa Weiss (University of Adelaide)
One large CP cohort study with 3 unrelated patients harboring the same homozygous missense mutation (p.D132A). The same missense mutation has been described in a homozygous state as well as compound heterozygous with a different pathogenic mutation in the same gene as causing pontocerebellar hypoplasia.
Sources: LiteratureCreated: 29 May 2023, 1:17 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia MIM#614678
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Pontocerebellar hypoplasia MIM#614678
- OMIM
- 606489
- Clinvar variants
- Variants in EXOSC3
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Hereditary Neuropathy - complex
- Mitochondrial disease
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Muscular dystrophy and myopathy_Paediatric
- Regression
- Fetal anomalies
- Arthrogryposis
- Mendeliome
- Prepair 500+
- Hereditary Spastic Paraplegia - paediatric
- Callosome
- Ataxia - paediatric
- Cerebral Palsy
- Cerebellar and Pontocerebellar Hypoplasia
History Filter Activity
30 May 2023, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: exosc3 has been classified as Green List (High Evidence).
30 May 2023, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: exosc3 has been classified as Green List (High Evidence).
29 May 2023, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Luisa Weiss (University of Adelaide)gene: EXOSC3 was added gene: EXOSC3 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXOSC3 were set to 33528536 Phenotypes for gene: EXOSC3 were set to Pontocerebellar hypoplasia MIM#614678 Review for gene: EXOSC3 was set to GREEN