ERCC6

ERCC excision repair 6, chromatin remodeling factor
OMIM: 609413
PanelMode of inheritanceDetails
9 panels
R-numbers: R83
Signed-off version 4.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cockayne syndrome, type B 133540
Green
in Cataracts
R-numbers: R31
Signed-off version 3.3
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 3.1
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, R412
Signed-off version 2.1
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 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
De Sanctis-Cacchione syndrome, OMIM:278800
R-numbers: R32
Signed-off version 3.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cockayne syndrome, type B, OMIM:133540
R-numbers: R88
Signed-off version 3.1
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 2.1
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