This Panel is marked as Internal
Early onset pancytopenia and red cell disorders
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
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- UKGTN
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- Shwachman Diamond syndrome (SDS)
- Shwachman-Bodian-Diamond syndrome, 260400
- Shwachman-Diamond Syndrome
- SHWACHMAN-DIAMOND SYNDROME
- OMIM
- 607444
- Clinvar variants
- Variants in SBDS
- Penetrance
- Complete
- Panels with this gene
-
- Skeletal dysplasia
- Childhood onset dystonia, chorea or related movement disorder
- Rare multisystem ciliopathy disorders
- Haematological malignancies for rare disease
- Haematological malignancies cancer susceptibility
- Cytopenia - NOT Fanconi anaemia
- Skeletal ciliopathies
- Intellectual disability
- Rare anaemia
- Cytopenias and congenital anaemias
- COVID-19 research
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Fetal anomalies
- DDG2P
History Filter Activity
30 Sep 2015, Gel status: 2
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene SBDS was set to BIALLELIC, autosomal or pseudoautosomal
30 Sep 2015, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)SBDS was added to Early onset pancytopenia and red cell disorderspanel. Source: UKGTN
30 Sep 2015, Gel status: 2
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene SBDS was set to BIALLELIC, autosomal or pseudoautosomal
30 Sep 2015, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)SBDS was added to Early onset pancytopenia and red cell disorderspanel. Source: UKGTN
30 Sep 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)SBDS was added to Early onset pancytopenia and red cell disorderspanel. Source: Radboud University Medical Center, Nijmegen
30 Sep 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)SBDS was added to Early onset pancytopenia and red cell disorderspanel. Sources: Expert list