Radial dysplasia
Gene: ERCC4EnsemblGeneIds (GRCh38): ENSG00000175595
EnsemblGeneIds (GRCh37): ENSG00000175595
OMIM: 133520, Gene2Phenotype
ERCC4 is in 24 panels
4 reviews
Louise Daugherty (Genomics England Curator)
Comment on list classification: Changed status from Red to Green due to evidence in the literatureCreated: 27 Feb 2017, 9:55 a.m.
Comment on phenotypes: omitted those phenotypes not relevant to this panel ( do not describe anaemia as a clinical outcome), specific mutations in ERCC4 are associated with xeroderma pigmentosum (OMIM: 278760) and XFE progeroid syndrome (OMIM: 610965)Created: 24 Feb 2017, 3:10 p.m.
Comment on publications: Added PMID: 24027083. In addition to the report of 2 individuals w/FA & biallelic ERCC4 pathogenic variants (PMID:23623386); there was a subsequent paper published a few months later, functional studies identified additional bone-fide FA ERCC4 mutations specifically disrupting interstrand cross-link repair (PMID: 24027083). Also the four variants are confirmed in the Leiden Open Variation Database (Fanconi anemia mutation database).Created: 24 Feb 2017, 3:10 p.m.
Ellen McDonagh (Genomics England Curator)
A third case has been repoted for fanconi anaemia (PMID: 23623389).Created: 24 Feb 2017, 3:57 p.m.
Helen Brittain (Genomics England Curator)
Comment when marking as ready: In biallelic form, sufficient evidence of causation for FA and therefore radial dysplasia is an associated phenotypic feature.Created: 11 May 2017, 10:13 a.m.
Comment on list classification: 3 cases and functional data supportive of causation.Created: 11 May 2017, 10:11 a.m.
Only two unrelated patients with the Fanconi presentation (therefore relevant to this panel) both with compound heterozygous mutations (truncating / missense combination) however paper undertook functional validation including abnormal chromosome breakage but cases were ascertained as having Fanconi for inclusion. Therefore I am not certain this is independent functional evidence.Created: 16 Feb 2017, 4:17 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group Q 615272; Xeroderma pigmentosum, group F 278760; Xeroderma pigmentosum, type F/Cockayne syndrome 278760
Publications
- PMID 23623386
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Radboud University Medical Center, Nijmegen
- UKGTN
- Eligibility statement prior genetic testing
- Phenotypes
-
- Fanconi anemia, complementation group Q, 615272
- OMIM
- 133520
- Clinvar variants
- Variants in ERCC4
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Structural eye disease
- Monogenic hearing loss
- Fetal anomalies
- Severe microcephaly
- White matter disorders and cerebral calcification - narrow panel
- Childhood solid tumours cancer susceptibility
- Anophthalmia or microphthalmia
- Radial dysplasia
- Intellectual disability
- Cytopenias and congenital anaemias
- Limb disorders
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Haematological malignancies cancer susceptibility
- 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
History Filter Activity
panel promoted to version 1
Rebecca Foulger (Genomics England curator)23.05.2017: Panel revised and approved to Version 1.0 after expert review.
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for ERCC4 were set to Fanconi anemia, complementation group Q, 615272
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Helen Brittain (Genomics England Curator)Phenotypes for ERCC4 were set to Fanconi anemia, complementation group Q 615272
Set publications
Helen Brittain (Genomics England Curator)Publications for ERCC4 were set to 23623386; 24027083; 23623389
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Upload gene information
Rebecca Foulger (Genomics England curator)ERCC4 was added to Radial dysplasiapanel. Sources: Expert list
Added New Source
Rebecca Foulger (Genomics England curator)ERCC4 was added to Radial dysplasiapanel. Source: Radboud University Medical Center, Nijmegen
Set Mode of Inheritance, Added New Source
Rebecca Foulger (Genomics England curator)ERCC4 was added to Radial dysplasiapanel. Source: UKGTN Model of inheritance for gene ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal
Created
Rebecca Foulger (Genomics England curator)ERCC4 was created by rfoulger
Added New Source
Rebecca Foulger (Genomics England curator)ERCC4 was added to Radial dysplasiapanel. Sources: Eligibility statement prior genetic testing