ERCC6

ERCC excision repair 6, chromatin remodeling factor
OMIM: 609413
PanelMode of inheritanceDetails
9 panels
R-numbers: R83
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cockayne syndrome, type B 133540
Green
in Cataracts
R-numbers: R31
Signed-off version 2.76
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cockayne syndrome type B, UV-sensitivesyndrome 1, Cerebrooculofacioskeletalsyndrome 1
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
DE SANCTIS-CACCHIONE SYNDROME 278800, UV-SENSITIVE SYNDROME 609413, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 1 214150, COCKAYNE SYNDROME TYPE B 133540
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
UV-SENSITIVE SYNDROME, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 1, COCKAYNE SYNDROME TYPE B, DE SANCTIS-CACCHIONE SYNDROME
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
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, DE SANCTIS-CACCHIONE SYNDROME (DSC)
R-numbers: R32, R33, R34, R35
Signed-off version 2.195
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cockayne syndrome, type B 133540
R-numbers: R88
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cockayne syndrome, type B, 133540 (Microcephaly)
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 1.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
De Sanctis-Cacchione syndrome, PMID: 26204423, Cockayne syndrome, UV-sensitive syndrome, Cockayne syndrome phenotype and UV-sensitive syndrome, Cockayne syndrome B, UV-sensitive syndrome 1, Intercranial Calcifications, Cockayne syndrome, type B, General Leukodystrophy & Mitochondrial Leukoencephalopathy
R-numbers: R227
Signed-off version 2.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cockayne syndrome, type B, Cockayne syndrome phenotype and UV-sensitive syndrome, PMID: 26204423, Cockayne syndrome B, De Sanctis-Cacchione syndrome, UV-sensitive syndrome 1