Congenital neutropaenia

Gene: SBDS

Green List (high evidence)

SBDS (SBDS, ribosome maturation factor)
EnsemblGeneIds (GRCh38): ENSG00000126524
EnsemblGeneIds (GRCh37): ENSG00000126524
OMIM: 607444, Gene2Phenotype
SBDS is in 16 panels

3 reviews

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Shwachman-Diamond syndrome

Peter Arkwright (Royal Manchester Foundation Trust)

Green List (high evidence)

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. Two expert reviewers recommend Green. Found in 2/4 sources. Three LOF variants reported in literature.
Created: 25 May 2016, 9:41 a.m.

History Filter Activity

8 Jun 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for SBDS were set to Shwachman-Diamond syndrome, 260400

26 May 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

26 May 2016, Gel status: 2

Upload gene information

Sarah Leigh (Genomics England Curator)

SBDS was added to Congenital neutropaeniapanel. Sources: Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Literature

26 May 2016, Gel status: 4

clearsources

Sarah Leigh (Genomics England Curator)

SBDSAll sources for gene: SBDS were removed

25 May 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

25 May 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

25 May 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for SBDS were set to Shwachman-Diamond syndrome, 260400

25 May 2016, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for SBDS were set to 12496757; 11342425; 14749921

25 May 2016, Gel status: 0

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for SBDS was changed to BIALLELIC, autosomal or pseudoautosomal

25 May 2016, Gel status: 0

Upload gene information

Sarah Leigh (Genomics England Curator)

SBDS was added to Congenital neutropaeniapanel. Sources: Expert Review,Radboud University Medical Center, Nijmegen,UKGTN

12 Oct 2015, Gel status: 0

Added New Source

Peter Arkwright (Royal Manchester Foundation Trust)

SBDS was added to Congenital neutropaeniapanel. Sources: Literature