Monogenic short stature
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
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
-
- Childhood solid tumours cancer susceptibility
- White matter disorders and cerebral calcification - childhood onset
- Radial dysplasia
- Fetal anomalies
- Anophthalmia or microphthalmia
- Adult solid tumours cancer susceptibility
- Haematological malignancies cancer susceptibility
- Monogenic short stature
- Hereditary ataxia, adult onset
- Cytopenias and congenital anaemias
- COVID-19 research
- Monogenic hearing loss
- Fanconi anaemia or Bloom syndrome
- DDG2P
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Neurofibromatosis Type 1
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Haematological malignancies for rare disease
- Severe microcephaly
- Intellectual disability
- Structural eye disease
- Childhood solid tumours
- Limb disorders
- Pigmentary skin disorders
History Filter Activity
26 Mar 2024, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: ERCC4 was added gene: ERCC4 was added to Monogenic short stature. 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, OMIM:615272