Severe microcephaly
Gene: ERCC4EnsemblGeneIds (GRCh38): ENSG00000175595
EnsemblGeneIds (GRCh37): ENSG00000175595
OMIM: 133520, Gene2Phenotype
ERCC4 is in 24 panels
2 reviews
Louise Daugherty (Genomics England Curator)
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene GreenCreated: 29 Jul 2019, 4:18 p.m. | Last Modified: 29 Jul 2019, 4:18 p.m.
Panel Version: 1.62
Rebecca Foulger (Genomics England curator)
Comment on list classification: Updated rating from Red to Green: 3 cases linking fanconi anaemia and ERCC4 and a further case linking ERCC4 to pre-natal microcephaly.Created: 9 Feb 2017, 2:29 p.m.
PMID:23623389 (Kashiyanma et al., 2013) present a patient (CS1USAU) with Cockayne syndrome who was prenatally diagnosed with microcephaly; the patient was compound heterozygous for mutations in ERCC4. They present another patient (XPCS1CD) with compound heterozygous mutations in ERCC4 and clinical features of Fanconi anaemia.Created: 9 Feb 2017, 2:28 p.m.
Bogliolo et al. (PMID:23623386) report 2 unrelated Fanconi anaemia patients (German and Spanish) with compound heterozygous ERCC4 mutations.Created: 9 Feb 2017, 2:25 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group Q, 61527
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Literature
- Other
- Phenotypes
-
- Fanconi anemia, complementation group Q, 61527
- OMIM
- 133520
- Clinvar variants
- Variants in ERCC4
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Structural eye disease
- Monogenic hearing loss
- Severe microcephaly
- White matter disorders and cerebral calcification - narrow panel
- Childhood solid tumours cancer susceptibility
- Anophthalmia or microphthalmia
- Radial dysplasia
- Intellectual disability
- Cytopenias and congenital anaemias
- Limb disorders
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Fetal anomalies
- Haematological malignancies cancer susceptibility
- 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
History Filter Activity
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to ERCC4.
panel promoted to version 1
Rebecca Foulger (Genomics England curator)2nd March 2017: Panel review was assessed and panel was revised according to expert review and additional curation. This panel began with an expert gene list from Professor Andrew Jackson (University of Edinburgh) for primary microcephaly (MCPH) and microcephalic primordial dwarfism (MPD). Other disorders are included where microcephaly is a primary feature. Disorders where microcephaly is not the primary presenting feature are not included (e.g. congenital disorders of glycosylation, Proud syndrome, Norrie disease). The panel does not include disorders with a cortical malformation (e.g. lissencephaly) since the Malformations of cortical development' panel would be applied to these patients.
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
Created
Rebecca Foulger (Genomics England curator)ERCC4 was created by rfoulger
Added New Source
Rebecca Foulger (Genomics England curator)ERCC4 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Literature,Other