Haematological malignancies for rare disease
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
- None
- Publications
-
- 28297620
- Cancer Gene Census
- Panels with this gene
-
- Skeletal ciliopathies
- Cytopenia - NOT Fanconi anaemia
- Haematological malignancies for rare disease
- Skeletal dysplasia
- Rare anaemia
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Haematological malignancies cancer susceptibility
- Intellectual disability
- Dystonia, chorea or related movement disorder, childhood onset
- Rare multisystem ciliopathy disorders
- Cytopenias and congenital anaemias
- COVID-19 research
- DDG2P
- Fetal anomalies
History Filter Activity
22 Aug 2018, Gel status: 4
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)22nd August 2018: Reviewed by Helen Brittain, and suggested changes approved by Clare Turnbull. Changes made prior to promoting to version 1.
10 Apr 2018, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)SBDS was added to Haematological malignancies for rare disease panel. Sources: Curated sources,Expert Review Green
10 Apr 2018, Gel status: 4
Created
Ellen McDonagh (Genomics England Curator)SBDS was created by Ellen McDonagh