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
-
- Retinal disorders
- Fetal anomalies
- Anophthalmia or microphthalmia
- Intellectual disability
- Bilateral congenital or childhood onset cataracts
- White matter disorders and cerebral calcification - narrow panel
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Intracerebral calcification disorders
- Hereditary neuropathy
- Structural eye disease
- Inherited white matter disorders
- Adult onset neurodegenerative disorder
- Monogenic short stature
- Severe microcephaly
- Osteogenesis imperfecta
- Hereditary neuropathy or pain disorder
- Early onset dystonia
- Arthrogryposis
- IUGR and IGF abnormalities
- Hydroa vacciniforme
- Adult onset dystonia, chorea or related movement disorder
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
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