Skeletal dysplasia
Gene: SBDSEnsemblGeneIds (GRCh38): ENSG00000126524
EnsemblGeneIds (GRCh37): ENSG00000126524
OMIM: 607444, Gene2Phenotype
SBDS is in 14 panels
4 reviews
Tracy Lester (Genetics laboratory, Oxford UK)
Metaphyseal dysplasia gp of SD, Severe spondylodysplastic dysplasias gp of SD - many cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Shwachman-Diamond syndrome 260400
Eleanor Williams (Genomics England Curator)
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: SBDS; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:37 a.m.
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least four variants reportedCreated: 27 Jul 2016, 10:03 a.m.
Ana Beleza (Bristol Regional Genetics Service)
Tier 3Created: 17 Jun 2016, 8:07 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Shwachman-Diamond syndrome 260400; {Aplastic anemia, susceptibility to} 609135
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Expert Review
- UKGTN
- Expert list
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Shwachman-Diamond syndrome 260400
- Shwachman-Diamond syndrome 260400
- OMIM
- 607444
- Clinvar variants
- Variants in SBDS
- Penetrance
- Complete
- 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
Eleanor Williams (Genomics England Curator)Added phenotypes Shwachman-Diamond syndrome 260400 for gene: SBDS
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to SBDS. Rating Changed from Green List (high evidence) to Green List (high evidence)
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 9th August 2016
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).
Upload gene information
Sarah Leigh (Genomics England Curator)SBDS was added to Unexplained skeletal dysplasiapanel. Sources: Expert Review
Upload gene information
Sarah Leigh (Genomics England Curator)SBDS was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,UKGTN
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for SBDS were set to Shwachman-Diamond syndrome 260400
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for SBDS was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Sarah Leigh (Genomics England Curator)SBDS was added to Unexplained skeletal dysplasiapanel. Sources:
Created
Sarah Leigh (Genomics England Curator)SBDS was created by sleigh