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Intellectual disability syndromic and non-syndromic

Gene: ERCC3

Green List (high evidence)

ERCC3 (ERCC excision repair 3, TFIIH core complex helicase subunit)
EnsemblGeneIds (GRCh38): ENSG00000163161
EnsemblGeneIds (GRCh37): ENSG00000163161
OMIM: 133510, Gene2Phenotype
ERCC3 is in 15 panels

1 review

Ken Lee Wan (Monash Health)

Green List (high evidence)

ERCC3 is definitively associated with autosomal recessive xeroderma pigmentosum group B (https://search.clinicalgenome.org/CCID:004762).

Bilateral pathogenic variants cause multisystem condition including intellectual impairment (PMID: 20301571).
Created: 20 Sep 2024, 4:56 a.m. | Last Modified: 20 Sep 2024, 4:56 a.m.
Panel Version: 0.6222

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
xeroderma pigmentosum group B MONDO:0012531

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: ercc3 has been classified as Green List (High Evidence).

24 Sep 2024, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: ERCC3 were changed from to xeroderma pigmentosum group B MONDO:0012531

24 Sep 2024, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: ERCC3 were set to

24 Sep 2024, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: ERCC3 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: ERCC3 was added gene: ERCC3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ERCC3 was set to Unknown