Growth failure in early childhood
Gene: ERCC4EnsemblGeneIds (GRCh38): ENSG00000175595
EnsemblGeneIds (GRCh37): ENSG00000175595
OMIM: 133520, Gene2Phenotype
ERCC4 is in 24 panels
1 review
Rebecca Foulger (Genomics England curator)
Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that Green genes associated with the Fanconi anaemia phenotype should be included on this panel. Therefore added to panel as a Green gene.Created: 30 May 2019, 9:51 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group Q, 615272; 615272 Fanconi anemia, complementation group Q
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Fanconi anemia, complementation group Q, OMIM:615272
- OMIM
- 133520
- Clinvar variants
- Variants in ERCC4
- Penetrance
- None
- Publications
- Panels with this gene
-
- Anophthalmia or microphthalmia
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Pigmentary skin disorders
- Cytopenias and congenital anaemias
- COVID-19 research
- Neurofibromatosis Type 1
- Monogenic short stature
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Childhood solid tumours
- Monogenic hearing loss
- Haematological malignancies for rare disease
- Confirmed Fanconi anaemia or Bloom syndrome
- DDG2P
- Adult solid tumours cancer susceptibility
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Haematological malignancies cancer susceptibility
- White matter disorders and cerebral calcification - narrow panel
- Limb disorders
- Severe microcephaly
- Structural eye disease
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- Fetal anomalies
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ERCC4 were changed from Fanconi anemia, complementation group Q, 615272; 615272 Fanconi anemia, complementation group Q to Fanconi anemia, complementation group Q, OMIM:615272
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: ERCC4 was added gene: ERCC4 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC4 were set to 24027083; 23623386; 23623389 Phenotypes for gene: ERCC4 were set to Fanconi anemia, complementation group Q, 615272; 615272 Fanconi anemia, complementation group Q