Calcium and Phosphate disorders
Gene: SBDSEnsemblGeneIds (GRCh38): ENSG00000126524
EnsemblGeneIds (GRCh37): ENSG00000126524
OMIM: 607444, Gene2Phenotype
SBDS is in 18 panels
2 reviews
Chirag Patel (Genetic Health Queensland)
Not really a calcium disorderCreated: 24 Nov 2022, 6:54 a.m. | Last Modified: 24 Nov 2022, 6:54 a.m.
Panel Version: 0.38
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 Red
- Expert Review Green
- KidGen_CalcPhos v38.1.0
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sbds has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SBDS were changed from to Shwachman-Diamond syndrome, MIM# 260400
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: SBDS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: sbds has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: sbds has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SBDS was added gene: SBDS was added to Abnormalities of renal calcium and phosphate metabolism_KidGen. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green Mode of inheritance for gene: SBDS was set to Unknown