1. Panels
  2. Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria
  3. SBDS
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Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria

Gene: SBDS

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

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Eligibility statement prior genetic testing
Phenotypes
  • Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia
  • Shwachman_Diamond Syndrome
  • Shwachman-Bodian-Diamond syndrome
  • Shwachman Diamond syndrome (SDS)
OMIM
607444
Clinvar variants
Variants in SBDS
Penetrance
Complete
Panels with this gene

History Filter Activity

19 Nov 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

SBDS was added to Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuriapanel. Source: Expert list

29 Oct 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

SBDS was added to Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuriapanel. Source: Radboud University Medical Center, Nijmegen

29 Oct 2015, Gel status: 1

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

SBDS was added to Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuriapanel. Source: UKGTN Model of inheritance for gene SBDS was set to BIALLELIC, autosomal or pseudoautosomal

29 Oct 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SBDS was created by ellenmcdonagh

29 Oct 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SBDS was added to Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuriapanel. Sources: Eligibility statement prior genetic testing