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  2. Anaemias and red cell disorders
  3. SRP72
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Anaemias and red cell disorders

Gene: SRP72

Green List (high evidence)
SRP72 (signal recognition particle 72)
EnsemblGeneIds (GRCh38): ENSG00000174780
EnsemblGeneIds (GRCh37): ENSG00000174780
OMIM: 602122, Gene2Phenotype
SRP72 is in 5 panels

1 review

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Myelodysplastic syndrome (MDS), Paediatric; Bone marrow failure 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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
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)
  • Bone Marrow Failure, Familial
OMIM
602122
Clinvar variants
Variants in SRP72
Penetrance
Complete
Panels with this gene

History Filter Activity

22 Jul 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SRP72 was created by ellenmcdonagh

22 Jul 2016, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

SRP72 was added to Anaemias and red cell disorderspanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert list