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  3. EXOSC2
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Syndromic Retinopathy

Gene: EXOSC2

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

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

3 patients from 2 unrelated German families with homozygous or compound heterozygous mutations (G30V, G198D), segregated with the disorder in both families. Drosophila model showed the gene is critical for eye development, and was rescued by the normal protein.
Sources: Expert list
Created: 7 Feb 2020, 9:21 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 7 Feb 2020, 9:21 a.m.

Panel version: Imported from Autosomal Recessive/X-Linked Retinitis Pigmentosa panel version 0.6

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Three individuals from two families, but founder mutation, some functional data.
Created: 1 Dec 2019, 10:53 p.m. | Last Modified: 1 Dec 2019, 10:53 p.m.
Panel Version: 0.123

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 1 Dec 2019, 10:53 p.m.
Last Modified: 1 Dec 2019, 10:53 p.m.
Panel version: Imported from Autosomal Recessive/X-Linked Retinitis Pigmentosa panel version Imported from Retinitis Pigmentosa panel version Imported from Intellectual Disability syndromic and nonsyndromic_VCGS panel version 0.123

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • RetNet
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
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

10 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: exosc2 has been classified as Green List (High Evidence).

10 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: EXOSC2 were changed from to Short stature, hearing loss, retinitis pigmentosa, and distinctive facies, MIM# 617763

10 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: EXOSC2 were set to

10 Oct 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: EXOSC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

7 Feb 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

gene: EXOSC2 was added gene: EXOSC2 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet Mode of inheritance for gene: EXOSC2 was set to Unknown