Primary immunodeficiency or monogenic inflammatory bowel disease
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
-
- 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
26 Feb 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Louise Daugherty (Genomics England Curator)gene: ERCC4 was added gene: ERCC4 was added to Primary immunodeficiency. 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; Bone marrow failure; Fanconi Anemia Type Q; Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage