Anaemias and red cell disorders
Gene: SBDS

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

1 review

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Shwachman-Diamond syndrome

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 16 Jan 2017, 3:47 p.m.

Panel version: 0.9

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

UKGTN
Expert list
Radboud University Medical Center, Nijmegen
Eligibility statement prior genetic testing

Phenotypes

Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia
Shwachman_Diamond Syndrome
Shwachman-Bodian-Diamond syndrome
Shwachman Diamond syndrome (SDS)
Shwachman-Bodian-Diamond syndrome, 260400
Shwachman-Diamond Syndrome
SHWACHMAN-DIAMOND SYNDROME

OMIM

607444

Clinvar variants

Variants in SBDS

Penetrance

Complete

Panels with this gene

History Filter Activity

22 Jul 2016, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

SBDS was added to Anaemias and red cell disorderspanel. Sources: Eligibility statement prior genetic testing,UKGTN,Radboud University Medical Center, Nijmegen,Expert list

22 Jul 2016, Gel status: 0

Created