Neurofibromatosis Type 1
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
Alice Gardham (Genomics England)
Comment on list classification: Causes DNA instability but not definitely associated with Fanconi/café-au-laitsCreated: 3 Nov 2016, 3:58 p.m.
Mutations identified in two unrelated individuals. Listed as causing Fanconi anaemia on OMIM and G2PCreated: 2 Nov 2016, 10:53 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anaemia, complementation group Q 615272
Publications
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 Red
- UKGTN
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Xeroderma pigmentosum, group F, 278760
- XFE progeroid syndrome, 610965
- Fanconi anemia, complementation group Q, 615272
- Xeroderma pigmentosum, type F/Cockayne syndrome, 278760
- Fanconi Anaemia
- OMIM
- 133520
- Clinvar variants
- Variants in ERCC4
- Penetrance
- Complete
- Panels with this gene
-
- Monogenic short stature
- Adult solid tumours cancer susceptibility
- Severe microcephaly
- Childhood solid tumours
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Structural eye disease
- Confirmed Fanconi anaemia or Bloom syndrome
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- Limb disorders
- Anophthalmia or microphthalmia
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Haematological malignancies cancer susceptibility
- White matter disorders and cerebral calcification - narrow panel
- Monogenic hearing loss
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- DDG2P
- Cytopenias and congenital anaemias
- COVID-19 research
- Fetal anomalies
- Pigmentary skin disorders
- Neurofibromatosis Type 1
- Haematological malignancies for rare disease
History Filter Activity
panel promoted to version 1
Alice Gardham (Genomics England)Panel finalised 14th November 2016
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Added New Source
Alice Gardham (Genomics England)ERCC4 was added to Neurofibromatosis Type 1panel. Sources: Radboud University Medical Center, Nijmegen,UKGTN
Created
Alice Gardham (Genomics England)ERCC4 was created by agardham