This Panel is marked as Retired
Multiple Tumours
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
Ellen McDonagh (Genomics England Curator)
Information from TruSight panel: Pathogenic Mutations are Inactivating.Created: 5 Feb 2016, 11:47 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- TruSight Cancer Panel (Illumina)
- Phenotypes
-
- Schwachman-Diamond Syndrome
- Myeloid hematological malignancy (leukemia, myelodysplastic syndrome)
- OMIM
- 607444
- Clinvar variants
- Variants in SBDS
- Penetrance
- Complete
- Panels with this gene
-
- Skeletal ciliopathies
- Intellectual disability
- COVID-19 research
- Skeletal dysplasia
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Rare anaemia
- Childhood onset dystonia, chorea or related movement disorder
- Rare multisystem ciliopathy disorders
- Fetal anomalies
- Haematological malignancies for rare disease
- Haematological malignancies cancer susceptibility
- Cytopenia - NOT Fanconi anaemia
- Cytopenias and congenital anaemias
History Filter Activity
5 Feb 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)SBDS was added to Multiple Tumourspanel. Sources: TruSight Cancer Panel (Illumina)
5 Feb 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)SBDS was created by ellenmcdonagh