Skeletal dysplasia
Gene: SBDSEnsemblGeneIds (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, clinical features classically comprise exocrine pancreatic dysfunction, bony metaphyseal dysostosis, and varying degrees of marrow dysfunction with cytopaenias.Created: 5 Jul 2021, 11:04 p.m. | Last Modified: 5 Jul 2021, 11:04 p.m.
Panel Version: 0.8212
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Shwachman-Diamond syndrome, MIM# 260400
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Expert Review
- UKGTN
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- NHS GMS
- Expert list
- Victorian Clinical Genetics Services
- Phenotypes
-
- Shwachman-Diamond syndrome 260400
- Shwachman-Diamond syndrome 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
Set Phenotypes
Tiong Tan (Victorian Clinical Genetics Services)Added phenotypes Shwachman-Diamond syndrome 260400; Shwachman-Diamond syndrome 260400 for gene: SBDS
Set Phenotypes
Tiong Tan (Victorian Clinical Genetics Services)Added phenotypes Shwachman-Diamond syndrome 260400; Shwachman-Diamond syndrome 260400 for gene: SBDS
Added New Source, Set Phenotypes
Tiong Tan (Victorian Clinical Genetics Services)Source Victorian Clinical Genetics Services was added to SBDS. Added phenotypes Shwachman-Diamond syndrome 260400; Shwachman-Diamond syndrome 260400 for gene: SBDS
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 Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Expert Review Mode of inheritance for gene: SBDS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SBDS were set to Shwachman-Diamond syndrome 260400; Shwachman-Diamond syndrome 260400