ERCC4

ERCC excision repair 4, endonuclease catalytic subunit
OMIM: 133520
PanelMode of inheritanceDetails
13 panels
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group Q, 615272, Xeroderma pigmentosum, group F, 278760
R-numbers: R229, R258
Signed-off version 1.7
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
R-numbers: R21, R412
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
XFE PROGEROID SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP Q, PRIMORDIAL DWARFISM, XERODERMA PIGMENTOSUM, GROUP F, Xeroderma pigmentosum, group F, 278760
R-numbers: R147
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group Q, 615272, 615272 Fanconi anemia, complementation group Q
Signed-off version 3.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Class: BM failure FA, (typ AR), Fanconi anemia, MDS, AML, Squamous cell carcinoma: oral, GI, vulvar
R-numbers: R54
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Xeroderma pigmentosum, group F OMIM:278760, xeroderma pigmentosum group F MONDO:0010215
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group Q, 615272, Radial Ray abnormality
R-numbers: R236
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F, XPF
R-numbers: R88
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group Q, 61527
R-numbers: R359
Signed-off version 3.1
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
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Xeroderma pigmentosum, type F/Cockayne syndrome, OMIM:278760, XFE progeroid syndrome, OMIM:610965
R-numbers: R227
Signed-off version 2.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Xeroderma pigmentosum, group F, 278760, Xeroderma pigmentosum, type F/Cockayne syndrome, 278760