Skeletal ciliopathies

Gene: SBDS

Green List (high evidence)

SBDS (SBDS, ribosome maturation factor)
EnsemblGeneIds (GRCh38): ENSG00000126524
EnsemblGeneIds (GRCh37): ENSG00000126524
OMIM: 607444, Gene2Phenotype
SBDS is in 15 panels

1 review

Alice Gardham (Genomics England)

Comment on list classification: Literature suggests that Shwachman -Diamond can present with similar skeletal features to Jeune
Created: 26 Jan 2017, 9:43 a.m.
Comment when marking as ready: Not a ciliopathy. Unlikely to fit entry criteria
Created: 25 Jan 2017, 9:30 a.m.

History Filter Activity

10 Jul 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: SBDS was added gene: SBDS was added to Skeletal ciliopathies. Sources: UKGTN,Expert list,Expert Review Green Mode of inheritance for gene: SBDS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SBDS were set to 22554078 Phenotypes for gene: SBDS were set to Skeletal Ciliopathies