Structural eye disease
Gene: ERCC6EnsemblGeneIds (GRCh38): ENSG00000225830
EnsemblGeneIds (GRCh37): ENSG00000225830
OMIM: 609413, Gene2Phenotype
ERCC6 is in 23 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
cataract gene, can't find any evidence that it is associated with structural eye diseaseCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebrooculofacioskeletal syndrome 1; Macular degeneration, age-related, susceptibility to 5; 214150; 613761
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). cataract gene, can't find any evidence that it is associated with structural eye diseaseCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebrooculofacioskeletal syndrome 1, 214150; Macular degeneration, age-related, susceptibility to 5, 613761
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Red
- Phenotypes
-
- Cerebrooculofacioskeletal Syndrome
- Cerebrooculofacioskeletal syndrome 1, 214150
- Cockayne syndrome, type B, 133540
- De Sanctis-Cacchione syndrome, 278800
- {Macular degeneration, age-related, susceptibility to 5}, 613761
- UV-sensitive syndrome 1, 600630
- {Lung cancer, susceptibility to}, 211980
- OMIM
- 609413
- Clinvar variants
- Variants in ERCC6
- Penetrance
- None
- Panels with this gene
-
- Hereditary neuropathy
- Adult onset dystonia, chorea or related movement disorder
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- DDG2P
- Intellectual disability
- Intracerebral calcification disorders
- Inherited white matter disorders
- Monogenic short stature
- Osteogenesis imperfecta
- Adult onset neurodegenerative disorder
- Bilateral congenital or childhood onset cataracts
- Retinal disorders
- Early onset dystonia
- IUGR and IGF abnormalities
- Hydroa vacciniforme
- Structural eye disease
- Arthrogryposis
- Fetal anomalies
- Severe microcephaly
- Hereditary neuropathy or pain disorder
- White matter disorders and cerebral calcification - narrow panel
- Anophthalmia or microphthalmia
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: ERCC6 were changed from Cerebrooculofacioskeletal Syndrome; Cerebrooculofacioskeletal syndrome 1, 214150; Cockayne syndrome, type B, 133540Cerebrooculofacioskeletal syndrome 1, 214150De Sanctis-Cacchione syndrome, 278800{Macular degeneration, age-related, susceptibility to 5}, 613761UV-sensitive syndrome 1, 600630{Lung cancer, susceptibility to}, 211980; Macular degeneration, age-related, susceptibility to 5, 613761 to Cerebrooculofacioskeletal Syndrome; Cerebrooculofacioskeletal syndrome 1, 214150; Cockayne syndrome, type B, 133540; De Sanctis-Cacchione syndrome, 278800; {Macular degeneration, age-related, susceptibility to 5}, 613761; UV-sensitive syndrome 1, 600630; {Lung cancer, susceptibility to}, 211980
Added New Source, Set Phenotypes
Ivone Leong (Genomics England Curator)Source NHS GMS was added to ERCC6. Added phenotypes Cerebrooculofacioskeletal syndrome 1, 214150; Macular degeneration, age-related, susceptibility to 5, 613761 for gene: ERCC6
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: ERCC6 was added gene: ERCC6 was added to Structural eye disease. 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, 133540Cerebrooculofacioskeletal syndrome 1, 214150De Sanctis-Cacchione syndrome, 278800{Macular degeneration, age-related, susceptibility to 5}, 613761UV-sensitive syndrome 1, 600630{Lung cancer, susceptibility to}, 211980; Cerebrooculofacioskeletal Syndrome