Cytopenias and congenital anaemias
Gene: SBDSEnsemblGeneIds (GRCh38): ENSG00000126524
EnsemblGeneIds (GRCh37): ENSG00000126524
OMIM: 607444, Gene2Phenotype
SBDS is in 14 panels
2 reviews
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Sufficient evidence for causation. A common conversion event is reported as causative in the majorityCreated: 28 Feb 2017, 2:04 p.m.
From above PMID: "A pseudogene copy (SBDSP) with 97% nucleotide sequence identity resides in a locally duplicated genomic segment of 305 kb. We found recurring mutations resulting from gene conversion in 89% of unrelated individuals with SDS (141 of 158), with 60% (95 of 158) carrying two converted alleles."Created: 20 Feb 2017, 12:16 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Shwachman-Diamond syndrome 260400
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Eligibility statement prior genetic testing
- UKGTN
- Expert list
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Shwachman-Diamond syndrome 260400
- OMIM
- 607444
- Clinvar variants
- Variants in SBDS
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- 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
- Intellectual disability
- Haematological malignancies cancer susceptibility
- Rare anaemia
History Filter Activity
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Helen Brittain (Genomics England Curator)Phenotypes for SBDS were set to Shwachman-Diamond syndrome 260400
Set publications
Helen Brittain (Genomics England Curator)Publications for SBDS were set to 12496757; 14749921
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Louise Daugherty (Genomics England Curator)SBDS was added to Cytopaenias and congenital anaemiaspanel. Sources: Eligibility statement prior genetic testing,Expert list,Radboud University Medical Center, Nijmegen,UKGTN
Created
Louise Daugherty (Genomics England Curator)SBDS was created by LouiseD