Genomics England

ERCC6

ERCC excision repair 6, chromatin remodeling factor

Panel	Mode of inheritance	Details
Filter panels9 panels
Green in Arthrogryposis R-numbers: R83 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cockayne syndrome, type B 133540
Green in Bilateral congenital or childhood onset cataracts R-numbers: R31 Signed-off version 6.0	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 5.0	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
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes UV-SENSITIVE SYNDROME, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 1, COCKAYNE SYNDROME TYPE B, DE SANCTIS-CACCHIONE SYNDROME
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes De Sanctis-Cacchione syndrome, OMIM:278800
Green in Retinal disorders R-numbers: R32 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cockayne syndrome, type B, OMIM:133540
Green in Severe microcephaly R-numbers: R88 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cockayne syndrome, type B, 133540 (Microcephaly)
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 6.0	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
Green in Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome R-numbers: R227 Signed-off version 3.0	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