Haematological malignancies cancer susceptibility
Gene: SBDS
SBDS (SBDS, ribosome maturation factor)
EnsemblGeneIds (GRCh38): ENSG00000126524
EnsemblGeneIds (GRCh37): ENSG00000126524
OMIM: 607444, Gene2Phenotype
SBDS is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000126524
EnsemblGeneIds (GRCh37): ENSG00000126524
OMIM: 607444, Gene2Phenotype
SBDS is in 14 panels
1 review
Clare Turnbull (Queen Mary University London)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Curated sources
- Phenotypes
-
- Class: BM failure syndrome (typ AR)
- AML
- MDS
- Schwachman-Diamond syndrome
- MDS, AML
- OMIM
- 607444
- Clinvar variants
- Variants in SBDS
- Penetrance
- Complete
- Publications
-
- 28297620
- Cancer Gene Census
- Panels with this gene
-
- Haematological malignancies cancer susceptibility
- Rare anaemia
- Skeletal dysplasia
- Fetal anomalies
- COVID-19 research
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Haematological malignancies for rare disease
- Childhood onset dystonia, chorea or related movement disorder
- Cytopenia - NOT Fanconi anaemia
- Cytopenias and congenital anaemias
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Skeletal ciliopathies
- DDG2P
History Filter Activity
7 Sep 2018, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Ellen McDonagh: Comment on mode of inheritance
30 Jan 2018, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)Expert Review Green was added to SBDS. Panel: Haematological malignancies pertinent cancer susceptibility
21 Jun 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)SBDS was added to Haematological malignanciespanel. Sources: Curated sources
21 Jun 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)SBDS was created by ellenmcdonagh