This Panel is marked as Retired
Growth failure in early childhood
Gene: ERCC6
ERCC6 (ERCC excision repair 6, chromatin remodeling factor)
EnsemblGeneIds (GRCh38): ENSG00000225830
EnsemblGeneIds (GRCh37): ENSG00000225830
OMIM: 609413, Gene2Phenotype
ERCC6 is in 23 panels
EnsemblGeneIds (GRCh38): ENSG00000225830
EnsemblGeneIds (GRCh37): ENSG00000225830
OMIM: 609413, Gene2Phenotype
ERCC6 is in 23 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 this gene was outside the scope of this clinical indication. The DNA repair disorders XP, Trichothiodystrophy and Cockayne syndrome have a recognisable phenotype and are covered by a separate clinical indication. Therefore demoted gene from Green to Red.Created: 30 May 2019, 9:49 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Cockayne syndrome, type B, 133540
- OMIM
- 609413
- Clinvar variants
- Variants in ERCC6
- Penetrance
- None
- Panels with this gene
-
- Arthrogryposis
- Retinal disorders
- White matter disorders and cerebral calcification - childhood onset
- Anophthalmia or microphthalmia
- Neurodegenerative disorders, adult onset
- Hereditary neuropathy or pain disorder
- Severe microcephaly
- Intracerebral calcification disorders
- Fetal anomalies
- Dystonia, chorea or related movement disorder, adult onset
- Osteogenesis imperfecta
- Monogenic short stature
- Inherited white matter disorders
- DDG2P
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Intellectual disability
- Early onset dystonia
- Dystonia, chorea or related movement disorder, childhood onset
- Hereditary neuropathy
- Bilateral congenital or childhood onset cataracts
- Structural eye disease
- IUGR and IGF abnormalities
- Hydroa vacciniforme
History Filter Activity
30 May 2019, Gel status: 1
Added New Source, Status Update
Rebecca Foulger (Genomics England curator)Source Expert Review Red was added to ERCC6. Rating Changed from Green List (high evidence) to Red List (low evidence)
14 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: ERCC6 was added gene: ERCC6 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC6 were set to Cockayne syndrome, type B, 133540