Severe microcephaly
Gene: ERCC8EnsemblGeneIds (GRCh38): ENSG00000049167
EnsemblGeneIds (GRCh37): ENSG00000049167
OMIM: 609412, Gene2Phenotype
ERCC8 is in 18 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
emma baple (South West GMC)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Other
- Phenotypes
-
- Cockayne syndrome, type A, 216400 (Microcephaly)
- OMIM
- 609412
- Clinvar variants
- Variants in ERCC8
- Penetrance
- Complete
- Panels with this gene
-
- Hereditary neuropathy
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Retinal disorders
- DDG2P
- Inherited white matter disorders
- Monogenic short stature
- Osteogenesis imperfecta
- Bilateral congenital or childhood onset cataracts
- Hereditary neuropathy or pain disorder
- IUGR and IGF abnormalities
- Hydroa vacciniforme
- Structural eye disease
- Arthrogryposis
- Fetal anomalies
- Severe microcephaly
- White matter disorders and cerebral calcification - narrow panel
- Anophthalmia or microphthalmia
- Intellectual disability
History Filter Activity
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to ERCC8.
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.
Added New Source
Rebecca Foulger (Genomics England curator)ERCC8 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Other, Expert Review Green
Created
Rebecca Foulger (Genomics England curator)ERCC8 was created by rfoulger