Intracerebral calcification disorders
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
2 reviews
Ellen Thomas (Genomics England Curator)
Comment on list classification: Apply the Cockayne syndrome panel to patients with intra-cerebral calcification; no need to add separately.Created: 19 Dec 2016, 5:06 p.m.
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Not currently reviewed by external expert. Basal ganglia calcifications are a feature of Cockayne syndrome, type B. This is a green gene on the Cockayne and Xeroderma Pigmentosum-like disorders gene panel (version 1.0), Intellectual disability gene panel (version 1.14) and Inherited white matter disorders gene panel (version 1.0), and a confirmed DD gene for Cockayne Syndrome Type B.Created: 29 Nov 2016, 1:15 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Phenotypes
-
- Intercranial Calcifications
- OMIM
- 609413
- Clinvar variants
- Variants in ERCC6
- Penetrance
- Complete
- Publications
-
- PMID: 7063265
- Panels with this gene
-
- Anophthalmia or microphthalmia
- Bilateral congenital or childhood onset cataracts
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Intracerebral calcification disorders
- White matter disorders and cerebral calcification - narrow panel
- Intellectual disability
- DDG2P
- Childhood onset dystonia, chorea or related movement disorder
- Inherited white matter disorders
- Adult onset neurodegenerative disorder
- Structural eye disease
- Retinal disorders
- Hereditary neuropathy or pain disorder
- Early onset dystonia
- Osteogenesis imperfecta
- Monogenic short stature
- Severe microcephaly
- IUGR and IGF abnormalities
- Hydroa vacciniforme
- Hereditary neuropathy
- Fetal anomalies
- Arthrogryposis
- Adult onset dystonia, chorea or related movement disorder
History Filter Activity
19 Dec 2016, Gel status: 1
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)19th Dec 2016: panel revised according to expert review and internal curation review.
19 Dec 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
29 Nov 2016, Gel status: 2
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for ERCC6 was changed to BIALLELIC, autosomal or pseudoautosomal
29 Nov 2016, Gel status: 2
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
25 Aug 2016, Gel status: 1
Added New Source
Olivia Niblock (Genomics England Curator)ERCC6 was added to Intracerebral calcification disorderspanel. Sources: Emory Genetics Laboratory
25 Aug 2016, Gel status: 0
Created
Olivia Niblock (Genomics England Curator)ERCC6 was created by oniblock