Bone Marrow Failure

Gene: SBDS

Green List (high evidence)

SBDS (SBDS, ribosome maturation factor)
EnsemblGeneIds (GRCh38): ENSG00000126524
EnsemblGeneIds (GRCh37): ENSG00000126524
OMIM: 607444, Gene2Phenotype
SBDS is in 18 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

History Filter Activity

18 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sbds has been classified as Green List (High Evidence).

18 Jun 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SBDS were changed from to Shwachman-Diamond syndrome, MIM# 260400

18 Jun 2021, Gel status: 3

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

17 Nov 2019, Gel status: 3

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 Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SBDS was set to Unknown