Monogenic short stature
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
-
- Hereditary neuropathy or pain disorder
- Anophthalmia or microphthalmia
- Monogenic short stature
- Fetal anomalies
- Intracerebral calcification disorders
- Osteogenesis imperfecta
- White matter disorders and cerebral calcification - narrow panel
- Inherited white matter disorders
- Adult onset neurodegenerative disorder
- Structural eye disease
- Severe microcephaly
- Early onset dystonia
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Retinal disorders
- Hereditary neuropathy
- DDG2P
- Arthrogryposis
- IUGR and IGF abnormalities
- Hydroa vacciniforme
- Childhood onset dystonia, chorea or related movement disorder
- Adult onset dystonia, chorea or related movement disorder
- Intellectual disability
- Bilateral congenital or childhood onset cataracts
History Filter Activity
26 Mar 2024, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: ERCC6 was added gene: ERCC6 was added to Monogenic short stature. Sources: Expert Review Red 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