Mitochondrial disease
Gene: EXOSC3EnsemblGeneIds (GRCh38): ENSG00000107371
EnsemblGeneIds (GRCh37): ENSG00000107371
OMIM: 606489, Gene2Phenotype
EXOSC3 is in 17 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Gene-disease association with PCH is well established; one individual reported with mitochondrial dysfunction, postulated to be due to reduced degradation by a dysfunctional exosome complex.
Sources: Expert listCreated: 12 Apr 2020, 7:38 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia, type 1B 614678; Intellectual disability; Microcephaly; Hypotonia; Mitochondrial dysfunction
Publications
Bryony Thompson (Royal Melbourne Hospital)
Ataxia is not a prominent feature of the phenotype
Sources: Expert listCreated: 16 Jan 2020, 5:42 a.m. | Last Modified: 16 Jan 2020, 5:42 a.m.
Panel Version: 0.27
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia, type 1B, 614678
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Expert list
- Expert list
- Phenotypes
-
- Pontocerebellar hypoplasia, type 1B 614678
- Intellectual disability
- Microcephaly
- Hypotonia
- Mitochondrial dysfunction
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: exosc3 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: exosc3 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: EXOSC3 was added gene: EXOSC3 was added to Mitochondrial disease. Sources: Expert list Mode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXOSC3 were set to 28687512 Phenotypes for gene: EXOSC3 were set to Pontocerebellar hypoplasia, type 1B 614678; Intellectual disability; Microcephaly; Hypotonia; Mitochondrial dysfunction Review for gene: EXOSC3 was set to AMBER