Genomics England

ERCC4

ERCC excision repair 4, endonuclease catalytic subunit

Panel	Mode of inheritance	Details
Filter panels12 panels
Green in Adult solid tumours cancer susceptibility Signed-off version 2.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Fanconi anemia, complementation group Q, 615272, Xeroderma pigmentosum, group F, 278760
Green in Childhood solid tumours R-numbers: R359 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Fanconi anemia, complementation group Q, 615272, Xeroderma pigmentosum, type F/Cockayne syndrome, 278760, Fanconi anemia, complementation group Q, 615272, XFE progeroid syndrome, 610965, Xeroderma pigmentosum, group F, 278760
Green in Confirmed Fanconi anaemia or Bloom syndrome R-numbers: R229, R258 Signed-off version 2.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Fanconi anemia, complementation group Q, 615272, 615272 Fanconi anemia, complementation group Q
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes PRIMORDIAL DWARFISM 615272, XFE PROGEROID SYNDROME 610965, XERODERMA PIGMENTOSUM, GROUP F 278760, FANCONI ANEMIA, COMPLEMENTATION GROUP Q 615272
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes XFE PROGEROID SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP Q, PRIMORDIAL DWARFISM, XERODERMA PIGMENTOSUM, GROUP F, Xeroderma pigmentosum, group F, 278760
Green in Growth failure in early childhood R-numbers: R147 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Fanconi anemia, complementation group Q, 615272, 615272 Fanconi anemia, complementation group Q
Green in Haematological malignancies cancer susceptibility Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Class: BM failure FA, (typ AR), Fanconi anemia, MDS, AML, Squamous cell carcinoma: oral, GI, vulvar
Green in Hereditary ataxia with onset in adulthood R-numbers: R54 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Xeroderma pigmentosum, group F OMIM:278760, xeroderma pigmentosum group F MONDO:0010215
Green in Limb disorders Component of the following Super Panels: - Paediatric disorders Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Fanconi anemia, complementation group Q, 615272, Radial Ray abnormality
Green in Pigmentary skin disorders R-numbers: R236 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F, XPF
Green in Severe microcephaly R-numbers: R88 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Fanconi anemia, complementation group Q, 61527
Green in Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome R-numbers: R227 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Xeroderma pigmentosum, group F, 278760, Xeroderma pigmentosum, type F/Cockayne syndrome, 278760