Non-Fanconi anaemia
Gene: ERCC4EnsemblGeneIds (GRCh38): ENSG00000175595
EnsemblGeneIds (GRCh37): ENSG00000175595
OMIM: 133520, Gene2Phenotype
ERCC4 is in 24 panels
4 reviews
Helen Lindsay (Leeds Genetics Laboratory)
Variants in this GENE are reported as part of current diagnostic practice
Mark Greenslade (Bristol Genetics Laboratory)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Rebecca Foulger (Genomics England curator)
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.
Helen Savage (Congenica Ltd)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia complementation group Q
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Fanconi anemia, complementation group Q, 615272
- Xeroderma pigmentosum, type F/Cockayne syndrome, 278760
- OMIM
- 133520
- Clinvar variants
- Variants in ERCC4
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Childhood solid tumours cancer susceptibility
- Anophthalmia or microphthalmia
- Radial dysplasia
- White matter disorders and cerebral calcification - narrow panel
- Cytopenias and congenital anaemias
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Limb disorders
- DDG2P
- Haematological malignancies cancer susceptibility
- Intellectual disability
- Pigmentary skin disorders
- Monogenic short stature
- COVID-19 research
- Neurofibromatosis Type 1
- Haematological malignancies for rare disease
- Hereditary ataxia with onset in adulthood
- Confirmed Fanconi anaemia or Bloom syndrome
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Structural eye disease
- Monogenic hearing loss
- Fetal anomalies
- Severe microcephaly
History Filter Activity
Set Mode of Inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for ERCC4 was changed to BIALLELIC, autosomal or pseudoautosomal
Set publications
Ellen McDonagh (Genomics England Curator)Publications for ERCC4 were set to 23623386;23623389
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for ERCC4 were set to Fanconi anemia, complementation group Q, 615272;Xeroderma pigmentosum, type F/Cockayne syndrome, 278760
Added New Source
Ellen McDonagh (Genomics England Curator)ERCC4 was added to Non-Fanconi anaemiapanel. Source: UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)ERCC4 was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)ERCC4 was added to Non-Fanconi anaemiapanel. Source: UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)ERCC4 was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)ERCC4 was added to Non-Fanconi anaemiapanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)ERCC4 was added to Non-Fanconi anaemiapanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN