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Cerebral Palsy

Gene: EXOSC3

Green List (high evidence)

EXOSC3 (exosome component 3)
EnsemblGeneIds (GRCh38): ENSG00000107371
EnsemblGeneIds (GRCh37): ENSG00000107371
OMIM: 606489, Gene2Phenotype
EXOSC3 is in 17 panels

1 review

Luisa Weiss (University of Adelaide)

Green List (high evidence)

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: Literature
Created: 29 May 2023, 1:17 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia MIM#614678

Publications

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