SBDS

SBDS, ribosome maturation factor
OMIM: 607444
PanelMode of inheritanceDetails
8 panels
R-numbers: R91
Signed-off version 1.29
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 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SHWACHMAN-DIAMOND SYNDROME 607444
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SHWACHMAN-DIAMOND SYNDROME
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Class: BM failure syndrome (typ AR), AML, MDS, Schwachman-Diamond syndrome, MDS, AML
R-numbers: R15
Signed-off version 2.1
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 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Shwachman-Diamond syndrome, 260400 Shwachman-Diamond syndrome
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Skeletal Ciliopathies
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Shwachman-Diamond syndrome 260400, Shwachman-Diamond syndrome 260400