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Newborns main panel

Gene: SBDS

Green List (high evidence)
SBDS (SBDS, ribosome maturation factor)
EnsemblGeneIds (GRCh38): ENSG00000126524
EnsemblGeneIds (GRCh37): ENSG00000126524
OMIM: 607444, Gene2Phenotype
SBDS is in 14 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Awareness.

Additional Information: One of the most common pathogenic variants results from a gene conversion event, c.183_184delinsCT and c.258+2T>C variants (PMID: 36162759). Analysis of SBDS is complicated by the presence of a highly homologous pseudogene, SBDSP.
Created: 26 Sep 2024, 4:09 p.m. | Last Modified: 26 Sep 2024, 4:09 p.m.
Panel Version: 0.469
Created: 26 Sep 2024, 4:09 p.m.
Last Modified: 26 Sep 2024, 4:09 p.m.
Panel version: 0.469

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
SBDS curation results (clinicalgenome.org)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.135
One of the most common PVs results from a gene conversion event. c.[183_184delinsCT; 258+2T>C] and PMID: 36162759. Analysis of SBDS is complicated by the presence of a highly homologous pseudogene, SBDSP
Created: 1 Jun 2023, 12:20 p.m. | Last Modified: 1 Jun 2023, 12:20 p.m.
Panel Version: 0.133
Created: 1 Jun 2023, 12:20 p.m.
Last Modified: 1 Jun 2023, 12:20 p.m.
Panel version: 0.137

History Filter Activity

26 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: SBDS.

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Shwachman-Diamond syndrome 1 for gene: SBDS

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Shwachman-Diamond syndrome 1 for gene: SBDS

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Shwachman-Diamond syndrome 1 for gene: SBDS

9 May 2023, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to SBDS. Mode of inheritance for gene SBDS was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Shwachman-Diamond syndrome 1 for gene: SBDS Rating Changed from No List (delete) to Green List (high evidence)

9 Mar 2023, Gel status: 0

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Shwachman-Diamond syndrome 1 for gene: SBDS

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: SBDS was added gene: SBDS was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: SBDS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown