Genomics England

ERCC5

ERCC excision repair 5, endonuclease

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Adult solid tumours cancer susceptibility Signed-off version 2.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Xeroderma pigmentosum, group G, 278780
Green in Arthrogryposis R-numbers: R83 Signed-off version 5.21	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cerebrooculofacioskeletal syndrome 3, OMIM:616570, Cerebrooculofacioskeletal syndrome 3, MONDO:0014696
Green in Childhood solid tumours R-numbers: R359 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Xeroderma pigmentosum, group G, 278780
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.79	BIALLELIC, autosomal or pseudoautosomal	Phenotypes XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP G 278780
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.122	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cerebrooculofacioskeletal syndrome 3, OMIM:616570, Cerebrooculofacioskeletal syndrome 3, MONDO:0014696
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 5.343	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Xeroderma pigmentosum, group G, 278780Xeroderma pigmentosum, group G/Cockayne syndrome, 278780, XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP G (XP-G)
Green in Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome R-numbers: R227 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Xeroderma pigmentosum, group G, 278780, Xeroderma pigmentosum, group G/Cockayne syndrome, 278780