Genes in panel
STRs in panel
Prev Next

COVID-19 research

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

2 reviews

Sophie Hambleton (Newcastle University)

Green List (high evidence)

IUIS gene
Created: 7 May 2020, 1:11 p.m. | Last Modified: 7 May 2020, 1:11 p.m.
Panel Version: 0.202

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

Phenotypes
aplastic anaemia; myelodysplasia

Publications

Ivone Leong (Genomics England Curator)

Green List (high evidence)

IUIS: categorised under bone marrow failure with immune deficiency section, SRF72-deficiency. Inheritance AD. Associated features: Bone marrow failure and congenital nerve deafness
Created: 15 Apr 2020, 12:09 p.m. | Last Modified: 15 Apr 2020, 12:09 p.m.
Panel Version: 0.103

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

Phenotypes
Bone marrow failure syndrome 1, 614675

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • IUIS Classification December 2019
  • Expert Review Green
Phenotypes
  • Bone marrow failure syndrome 1, 614675
OMIM
602122
Clinvar variants
Variants in SRP72
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Apr 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: SRP72 was added gene: SRP72 was added to Viral susceptibility. Sources: Expert Review Green,IUIS Classification December 2019 Mode of inheritance for gene: SRP72 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SRP72 were set to 32086639; 32048120 Phenotypes for gene: SRP72 were set to Bone marrow failure syndrome 1, 614675