Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria

Gene: SRP72

Green List (high evidence)

SRP72 (signal recognition particle 72)
EnsemblGeneIds (GRCh38): ENSG00000174780
EnsemblGeneIds (GRCh37): ENSG00000174780
OMIM: 602122, Gene2Phenotype
SRP72 is in 4 panels

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Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia
  • Bone Marrow Failure, Familial
  • Bone marrow failure, familial, 614675
  • Familial Bone Marrow Failure
  • Familial MDS (Myelodysplastic syndromes)
OMIM
602122
Clinvar variants
Variants in SRP72
Penetrance
Complete
Panels with this gene

History Filter Activity

19 Nov 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

SRP72 was added to Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuriapanel. Source: Expert list

29 Oct 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

SRP72 was added to Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuriapanel. Source: Illumina TruGenome Clinical Sequencing Services

29 Oct 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

SRP72 was added to Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuriapanel. Source: Radboud University Medical Center, Nijmegen

29 Oct 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SRP72 was created by ellenmcdonagh

29 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SRP72 was added to Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuriapanel. Sources: UKGTN