Congenital neutropaenia
Gene: SBDSEnsemblGeneIds (GRCh38): ENSG00000126524
EnsemblGeneIds (GRCh37): ENSG00000126524
OMIM: 607444, Gene2Phenotype
SBDS is in 14 panels
3 reviews
Sophie Hambleton (Newcastle University)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Shwachman-Diamond syndrome
Peter Arkwright (Royal Manchester Foundation Trust)
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Two expert reviewers recommend Green. Found in 2/4 sources. Three LOF variants reported in literature.Created: 25 May 2016, 9:41 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- UKGTN
- Radboud University Medical Center, Nijmegen
- Literature
- Phenotypes
-
- Shwachman-Diamond syndrome, 260400
- OMIM
- 607444
- Clinvar variants
- Variants in SBDS
- Penetrance
- Complete
- 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
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for SBDS were set to Shwachman-Diamond syndrome, 260400
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Upload gene information
Sarah Leigh (Genomics England Curator)SBDS was added to Congenital neutropaeniapanel. Sources: Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Literature
clearsources
Sarah Leigh (Genomics England Curator)SBDSAll sources for gene: SBDS were removed
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for SBDS were set to Shwachman-Diamond syndrome, 260400
Set publications
Sarah Leigh (Genomics England Curator)Publications for SBDS were set to 12496757; 11342425; 14749921
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for SBDS was changed to BIALLELIC, autosomal or pseudoautosomal
Upload gene information
Sarah Leigh (Genomics England Curator)SBDS was added to Congenital neutropaeniapanel. Sources: Expert Review,Radboud University Medical Center, Nijmegen,UKGTN
Added New Source
Peter Arkwright (Royal Manchester Foundation Trust)SBDS was added to Congenital neutropaeniapanel. Sources: Literature