Genomics England

SBDS

SBDS, ribosome maturation factor

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in Cytopenia - NOT Fanconi anaemia R-numbers: R91 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Shwachman-Diamond syndrome, 260400, 260400 Shwachman-Diamond syndrome, Shwachman-Diamond syndrome 260400
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	BIALLELIC, autosomal or pseudoautosomal	Phenotypes SHWACHMAN-DIAMOND SYNDROME 607444
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	BIALLELIC, autosomal or pseudoautosomal	Phenotypes SHWACHMAN-DIAMOND SYNDROME
Green in Haematological malignancies cancer susceptibility Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Class: BM failure syndrome (typ AR), AML, MDS, Schwachman-Diamond syndrome, MDS, AML
Green in Primary immunodeficiency or monogenic inflammatory bowel disease R-numbers: R15 Signed-off version 6.12	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Shwachman-Diamond syndrome, 260400, Shwachman-Bodian-Diamond syndrome, Shwachman-Diamond-syndrome, Pancytopenia, exocrine pancreatic insufficiency, chondrodysplasia, Congenital defects of phagocyte number or function
Green in Rare anaemia R-numbers: R92 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Shwachman-Diamond syndrome, 260400 Shwachman-Diamond syndrome
Green in Skeletal ciliopathies Component of the following Super Panels: - Paediatric disorders - Rare multisystem ciliopathy Super panel Signed-off version 5.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Skeletal Ciliopathies
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 6.16	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Shwachman-Diamond syndrome 260400, Shwachman-Diamond syndrome 260400