IBMDx study
Gene: SBDS
SBDS (SBDS, ribosome maturation factor)
EnsemblGeneIds (GRCh38): ENSG00000126524
EnsemblGeneIds (GRCh37): ENSG00000126524
OMIM: 607444, Gene2Phenotype
SBDS is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000126524
EnsemblGeneIds (GRCh37): ENSG00000126524
OMIM: 607444, Gene2Phenotype
SBDS is in 18 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association, bone marrow abnormalities including cytopaenias are a key feature.Created: 18 Jun 2021, 9:21 a.m. | Last Modified: 18 Jun 2021, 9:21 a.m.
Panel Version: 0.297
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Shwachman-Diamond syndrome, MIM# 260400
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Green
- IBMDx Study
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Shwachman-Diamond syndrome, MIM# 260400
- OMIM
- 607444
- Clinvar variants
- Variants in SBDS
- Penetrance
- None
- Panels with this gene
-
- Ciliopathies
- Red cell disorders
- Mackenzie's Mission_Reproductive Carrier Screening
- Calcium and Phosphate disorders
- Metaphyseal dysplasias
- Prepair 1000+
- Bone Marrow Failure
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Skeletal Dysplasia_Fetal
- Phagocyte Defects
- Mendeliome
- IBMDx study
- Growth failure
- Congenital Diarrhoea
History Filter Activity
10 Dec 2021, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SBDS was added gene: SBDS was added to IBMDx study. Sources: IBMDx Study,Expert Review Green Mode of inheritance for gene: SBDS was set to Unknown Phenotypes for gene: SBDS were set to Shwachman-Diamond syndrome, MIM# 260400