This Panel is marked as Internal
Undiagnosed neurocutaneous disorders
Gene: ERCC4
ERCC4 (ERCC excision repair 4, endonuclease catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000175595
EnsemblGeneIds (GRCh37): ENSG00000175595
OMIM: 133520, Gene2Phenotype
ERCC4 is in 24 panels
EnsemblGeneIds (GRCh38): ENSG00000175595
EnsemblGeneIds (GRCh37): ENSG00000175595
OMIM: 133520, Gene2Phenotype
ERCC4 is in 24 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- 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
- Publications
- Panels with this gene
-
- Anophthalmia or microphthalmia
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Haematological malignancies cancer susceptibility
- Hereditary ataxia with onset in adulthood
- DDG2P
- Cytopenias and congenital anaemias
- COVID-19 research
- Monogenic short stature
- Fetal anomalies
- Neurofibromatosis Type 1
- Monogenic hearing loss
- Limb disorders
- Haematological malignancies for rare disease
- Adult solid tumours cancer susceptibility
- Severe microcephaly
- Pigmentary skin disorders
- Childhood solid tumours
- Intellectual disability
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Confirmed Fanconi anaemia or Bloom syndrome
- Structural eye disease
- White matter disorders and cerebral calcification - narrow panel
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
History Filter Activity
11 May 2017, Gel status: 2
Set publications
Rebecca Foulger (Genomics England curator)Publications for ERCC4 were set to 26759320
2 Nov 2016, Gel status: 2
Set Mode of Inheritance
Alice Gardham (Genomics England)Model of inheritance for gene ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal
10 Dec 2015, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)ERCC4 was added to Undiagnosed neurocutaneous disorderspanel. Source: UKGTN
10 Dec 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)ERCC4 was added to Undiagnosed neurocutaneous disorderspanel. Sources: Radboud University Medical Center, Nijmegen
10 Dec 2015, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)ERCC4 was created by ellenmcdonagh