Inherited bleeding disorders

Gene: RASGRP2

Green List (high evidence)

RASGRP2 (RAS guanyl releasing protein 2)
EnsemblGeneIds (GRCh38): ENSG00000068831
EnsemblGeneIds (GRCh37): ENSG00000068831
OMIM: 605577, Gene2Phenotype
RASGRP2 is in 3 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Platelet-type bleeding disorder 18

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Platelet-type bleeding disorder 18

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Platelet-type bleeding disorder 18
OMIM
605577
Clinvar variants
Variants in RASGRP2
Penetrance
Complete
Panels with this gene

History Filter Activity

19 Dec 2016, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Revised 19 December 2016

19 Dec 2016, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

RASGRP2 was added to Inherited bleeding disorderspanel. Source: Expert Review Green

9 Sep 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

RASGRP2 was created by ellenmcdonagh

9 Sep 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

RASGRP2 was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene