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Cytopenias and congenital anaemias

Gene: SRP72

Red List (low evidence)

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

2 reviews

Rebecca Foulger (Genomics England curator)

Comment on list classification: Updated rating from Green to Red: Variants only reported in 2 kindreds so far (recent reviews only refer to the two families). More evidence is required to be confident about causation.
Created: 9 Mar 2017, 12:30 p.m.
Added 'watchlist' tag because SRP72 is included in many reviews about aplasia and MDS (Bone marrow failure syndrome) but only 2 separate kindreds reported so far.
Created: 9 Mar 2017, 12:28 p.m.
2 unrelated families with bone marrow failure reported with SRP72 variants by PMID:22541560 (Kirwan 2012): in the first family, the proband had aplastic anemia, and 2 siblings had pancytopenia. Only MDS reported in the second family.
Created: 9 Mar 2017, 10:42 a.m.

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • 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)
  • Bone Marrow Failure, Familial
Tags
watchlist
OMIM
602122
Clinvar variants
Variants in SRP72
Penetrance
Complete
Panels with this gene

History Filter Activity

11 Mar 2017, Gel status: 1

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

9 Mar 2017, Gel status: 1

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

9 Mar 2017, Gel status: 3

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for SRP72 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Feb 2017, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

SRP72 was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert list,UKGTN

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

SRP72 was created by LouiseD