Skeletal ciliopathies
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
Alice Gardham (Genomics England)
Comment on list classification: Literature suggests that Shwachman -Diamond can present with similar skeletal features to JeuneCreated: 26 Jan 2017, 9:43 a.m.
Comment when marking as ready: Not a ciliopathy. Unlikely to fit entry criteriaCreated: 25 Jan 2017, 9:30 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- UKGTN
- Phenotypes
-
- Skeletal Ciliopathies
- OMIM
- 607444
- Clinvar variants
- Variants in SBDS
- Penetrance
- None
- Publications
- Panels with this gene
-
- Haematological malignancies cancer susceptibility
- Rare anaemia
- Intellectual disability
- Fetal anomalies
- COVID-19 research
- Skeletal dysplasia
- Rare multisystem ciliopathy disorders
- 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
10 Jul 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: SBDS was added gene: SBDS was added to Skeletal ciliopathies. Sources: UKGTN,Expert list,Expert Review Green Mode of inheritance for gene: SBDS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SBDS were set to 22554078 Phenotypes for gene: SBDS were set to Skeletal Ciliopathies