Genomics England

SLX4

SLX4 structure-specific endonuclease subunit

Panel	Mode of inheritance	Details
Filter panels10 panels
Green in Childhood solid tumours Signed-off version 5.11	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Fanconi Anaemia, Fanconi anemia, complementation group P, 613951, Fanconi Anemia
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes FANCONI ANEMIA COMPLEMENTATION GROUP P 613951
Green in Fanconi anaemia or Bloom syndrome R-numbers: R229, R258 Signed-off version 2.17	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Fanconi Anemia, 613951 Fanconi Anemia Fanconi anemia, complementation group P, Fanconi anemia, complementation group P, 613951
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes FANCONI ANEMIA COMPLEMENTATION GROUP P
Green in Haematological malignancies cancer susceptibility Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Class: BM failure FA, (typ AR), Fanconi anemia, MDS, AML, Bone marrow failure, Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma: oral, GI, vulvar
Green in Intellectual disability Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 11.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes FANCONI ANEMIA COMPLEMENTATION GROUP P
Green in Limb disorders Component of the following Super Panels: - Paediatric disorders Signed-off version 9.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Fanconi anemia, complementation group P, 613951, Radial Ray abnormality
Green in Monogenic short stature R-numbers: R453 Signed-off version 2.8	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Fanconi anemia, complementation group P, OMIM:613951
Green in Pigmentary skin disorders R-numbers: R236 Signed-off version 5.12	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Fanconi Anaemia, FANCP, FANCONI ANEMIA, COMPLEMENTATION GROUP P
Green in Severe microcephaly R-numbers: R88 Signed-off version 9.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Fanconi anemia, complementation group P, 613951 (Microcephaly)