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Intellectual disability syndromic and non-syndromic

Gene: EXOSC2

Amber List (moderate evidence)

EXOSC2 (exosome component 2)
EnsemblGeneIds (GRCh38): ENSG00000130713
EnsemblGeneIds (GRCh37): ENSG00000130713
OMIM: 602238, Gene2Phenotype
EXOSC2 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three individuals from two families, but founder mutation, some functional data.
Sources: Expert list
Created: 1 Dec 2019, 10:59 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short stature, hearing loss, retinitis pigmentosa, and distinctive facies, MIM# 617763

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Short stature, hearing loss, retinitis pigmentosa, and distinctive facies, MIM# 617763
OMIM
602238
Clinvar variants
Variants in EXOSC2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: exosc2 has been classified as Amber List (Moderate Evidence).

1 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: exosc2 has been classified as Amber List (Moderate Evidence).

1 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: EXOSC2 was added gene: EXOSC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list Mode of inheritance for gene: EXOSC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXOSC2 were set to 26843489; 31628467 Phenotypes for gene: EXOSC2 were set to Short stature, hearing loss, retinitis pigmentosa, and distinctive facies, MIM# 617763 Review for gene: EXOSC2 was set to GREEN