COVID-19 research
Gene: ERCC4EnsemblGeneIds (GRCh38): ENSG00000175595
EnsemblGeneIds (GRCh37): ENSG00000175595
OMIM: 133520, Gene2Phenotype
ERCC4 is in 24 panels
2 reviews
Catherine Snow (Genomics England)
IUIS: categorised under bone marrow failure with immune deficiency - Fanconi Anemia section. Inheritance ARCreated: 4 May 2020, 5:27 p.m. | Last Modified: 4 May 2020, 5:27 p.m.
Panel Version: 0.179
Sophie Hambleton (Newcastle University)
Relevance to COVID-19 unknownCreated: 27 Apr 2020, 2:35 p.m. | Last Modified: 27 Apr 2020, 2:35 p.m.
Panel Version: 0.163
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
xeroderma pigmentosum; Fanconi anaemia
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- IUIS Classification December 2019
- Phenotypes
-
- Fanconi anemia, complementation group Q, 615272
- Bone marrow failure
- Fanconi Anemia Type Q
- Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage
- OMIM
- 133520
- Clinvar variants
- Variants in ERCC4
- Penetrance
- None
- 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
Added New Source, Set Phenotypes, Status Update
Ellen McDonagh (Genomics England Curator)Source Expert Review Green was added to ERCC4. Added phenotypes Fanconi anemia, complementation group Q, 615272; Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage; Fanconi Anemia Type Q; Bone marrow failure for gene: ERCC4 Rating Changed from Red List (low evidence) to Green List (high evidence)
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: ERCC4 was added gene: ERCC4 was added to Viral susceptibility. Sources: IUIS Classification December 2019 Mode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC4 were set to 32086639; 32048120 Phenotypes for gene: ERCC4 were set to Fanconi anemia, complementation group Q, 615272; Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage; Fanconi Anemia Type Q; Bone marrow failure