Non-Fanconi anaemia
Gene: ERCC4
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Comment on mode of inheritance: Biallelic mode of inheritance confirmed by Expert review, OMIM and G2P.Created: 4 May 2017, 7:42 a.m.
Probable DD-G2P gene for Fanconi anemia, complementation group Q, 615272.Created: 9 Feb 2017, 2:02 p.m.
Comment on list classification: Updated rating from Amber to Green: 3 green external reviews plus 3 cases of ERCC4 causing Fanconi anaemia.Created: 9 Feb 2017, 2:01 p.m.
PMID:23623389 (Kashiyama et al., 2013) report a third case for a ERCC4 role in Fanconi anaemia, in an individual (patient XPCS1CD) with ERCC4 compound heterozygous mutations, and clinical features of Fanconi anaemia.Created: 9 Feb 2017, 1:59 p.m.
Compound heterozygous mutations were found in ERCC4 in 2 unrelated patients (Spanish and German) with FANCQ (MIM:615272) by Bogliolo et al., 2013 (PMID:23623386).Created: 9 Feb 2017, 1:47 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia complementation group Q
Mode of inheritance for ERCC4 was changed to BIALLELIC, autosomal or pseudoautosomal
Publications for ERCC4 were set to 23623386;23623389
This gene has been classified as Green List (High Evidence).
Phenotypes for ERCC4 were set to Fanconi anemia, complementation group Q, 615272;Xeroderma pigmentosum, type F/Cockayne syndrome, 278760
ERCC4 was added to Non-Fanconi anaemiapanel. Source: UKGTN
ERCC4 was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen
ERCC4 was added to Non-Fanconi anaemiapanel. Source: UKGTN
ERCC4 was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen
ERCC4 was added to Non-Fanconi anaemiapanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN
ERCC4 was added to Non-Fanconi anaemiapanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN