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Rare multisystem ciliopathy disorders

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

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.
Created: 25 Jan 2017, 9:30 a.m.

Panel version: 0.432

History Filter Activity

26 Jan 2017, Gel status: 4

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 by Alice Gardham on 26th January 2017

26 Jan 2017, Gel status: 4

Set publications

Alice Gardham (Genomics England)

Publications for SBDS were set to 22554078

26 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

25 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

25 Nov 2016, Gel status: 1

Upload gene information

Ellen McDonagh (Genomics England Curator)

SBDS was added to Rare multisystem ciliopathy disorderspanel. Sources: UKGTN

25 Nov 2016, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene SBDS were set to Skeletal Ciliopathies

5 Apr 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SBDS was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list

5 Apr 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SBDS was created by ellenmcdonagh