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
- Haematological malignancies cancer susceptibility
- Monogenic hearing loss
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Cytopenias and congenital anaemias
- Severe microcephaly
- COVID-19 research
- Limb disorders
- Structural eye disease
- Monogenic short stature
- Neurofibromatosis Type 1
- Childhood solid tumours
- Haematological malignancies for rare disease
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Confirmed Fanconi anaemia or Bloom syndrome
- Pigmentary skin disorders
- Adult solid tumours cancer susceptibility
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Fetal anomalies
- DDG2P
- White matter disorders and cerebral calcification - narrow panel
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