Genomics England

SLX4

SLX4 structure-specific endonuclease subunit

Panel	Mode of inheritance	Details
Filter panels10 panels
Green in Childhood solid tumours R-numbers: R359 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Fanconi Anaemia, Fanconi anemia, complementation group P, 613951, Fanconi Anemia
Green in Confirmed Fanconi anaemia or Bloom syndrome R-numbers: R229, R258 Signed-off version 2.5	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Fanconi Anemia, 613951 Fanconi Anemia Fanconi anemia, complementation group P, Fanconi anemia, complementation group P, 613951
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes FANCONI ANEMIA COMPLEMENTATION GROUP P 613951
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes FANCONI ANEMIA COMPLEMENTATION GROUP P
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, 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: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 6.13	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 5.4	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 1.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Fanconi anemia, complementation group P, OMIM:613951
Green in Pigmentary skin disorders R-numbers: R236 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Fanconi Anaemia, FANCP, FANCONI ANEMIA, COMPLEMENTATION GROUP P
Green in Severe microcephaly R-numbers: R88 Signed-off version 5.7	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Fanconi anemia, complementation group P, 613951 (Microcephaly)