Cerebellar hypoplasia
Gene: EXOSC3EnsemblGeneIds (GRCh38): ENSG00000107371
EnsemblGeneIds (GRCh37): ENSG00000107371
OMIM: 606489, Gene2Phenotype
EXOSC3 is in 14 panels
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Phenotypes
-
- Pontocerebellar hypoplasia, type 1B, OMIM:614678
- OMIM
- 606489
- Clinvar variants
- Variants in EXOSC3
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- DDG2P
- Cerebellar hypoplasia
- Arthrogryposis
- Hereditary ataxia
- Early onset or syndromic epilepsy
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Adult onset neurodegenerative disorder
- Childhood onset hereditary spastic paraplegia
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Paediatric motor neuronopathies
- Ataxia and cerebellar anomalies - narrow panel
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: EXOSC3 were changed from Pontocerebellar Hypoplasia type 1B; Pontocerebellar Hypoplasia; Pontocerebellar hypoplasia, type 1B, 614678 to Pontocerebellar hypoplasia, type 1B, OMIM:614678
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)22/02/2017: Panel revised after internal clinical review and further curation.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene EXOSC3 were set to Pontocerebellar Hypoplasia type 1B;Pontocerebellar Hypoplasia;Pontocerebellar hypoplasia, type 1B, 614678
Approved Gene
Ellen McDonagh (Genomics England Curator)This proposed gene was validated and added to this panel
Added New Source
Ellen McDonagh (Genomics England Curator)EXOSC3 was added to Cerebellar hypoplasiapanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)EXOSC3 was added to Cerebellar hypoplasiapanel. Source: Illumina TruGenome Clinical Sequencing Services
Added New Source
Ellen McDonagh (Genomics England Curator)EXOSC3 was added to Cerebellar hypoplasiapanel. Source: UKGTN
Added New Source
Helen Savage (Congenica Ltd)EXOSC3 was added to Cerebellar hypoplasiapanel. Sources: Literature,Other
Created
Helen Savage (Congenica Ltd)EXOSC3 was created by helen.savage