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Intellectual disability syndromic and non-syndromic

Gene: ERCC8

Green List (high evidence)

ERCC8 (ERCC excision repair 8, CSA ubiquitin ligase complex subunit)
EnsemblGeneIds (GRCh38): ENSG00000049167
EnsemblGeneIds (GRCh37): ENSG00000049167
OMIM: 609412, Gene2Phenotype
ERCC8 is in 21 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

ID is a feature of Cockayne syndrome and biallelic ERCC8 variants are a well-established cause of Cockayne syndrome.
Created: 24 Sep 2024, 11:55 a.m. | Last Modified: 24 Sep 2024, 11:55 a.m.
Panel Version: 0.6245

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cockayne syndrome type 1 MONDO:0019569

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

24 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ercc8 has been classified as Green List (High Evidence).

24 Sep 2024, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: ERCC8 were changed from to Cockayne syndrome type 1 MONDO:0019569

24 Sep 2024, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: ERCC8 were set to

24 Sep 2024, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: ERCC8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ERCC8 was added gene: ERCC8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ERCC8 was set to Unknown