Genomics England

ERCC8

ERCC excision repair 8, CSA ubiquitin ligase complex subunit

Panel	Mode of inheritance	Details
Filter panels9 panels
Green in Arthrogryposis R-numbers: R83 Signed-off version 6.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cockayne syndrome, type A 216400
Green in Bilateral congenital or childhood onset cataracts R-numbers: R31 Signed-off version 4.14	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cockayne syndrome type A MIMID, UV-sensitive syndrome 2, confirmed DD gene for Cockayne Syndrome Type A
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes COCKAYNE SYNDROME TYPE A 216400
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes COCKAYNE SYNDROME TYPE A
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 6.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cockayne syndrome, type A, 216400UV-sensitive syndrome 2, 614621, COCKAYNE SYNDROME TYPE A (CSA)
Green in Retinal disorders R-numbers: R32 Signed-off version 5.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cockayne syndrome, type A 216400
Green in Severe microcephaly R-numbers: R88 Signed-off version 5.7	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cockayne syndrome, type A, 216400 (Microcephaly)
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes PMID: 26204423, UV-sensitive syndrome, Cockayne syndrome phenotype and UV-sensitive syndrome, Cockayne syndrome, type A, General Leukodystrophy & Mitochondrial Leukoencephalopathy, Cockayne Syndrome
Green in Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome R-numbers: R227 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cockayne syndrome, type A, Cockayne syndrome phenotype and UV-sensitive syndrome, PMID: 26204423