Inherited bleeding disorders
Gene: RASGRP2EnsemblGeneIds (GRCh38): ENSG00000068831
EnsemblGeneIds (GRCh37): ENSG00000068831
OMIM: 605577, Gene2Phenotype
RASGRP2 is in 5 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)
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
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Revised 19 December 2016
Added New Source
Louise Daugherty (Genomics England Curator)RASGRP2 was added to Inherited bleeding disorderspanel. Source: Expert Review Green
Created
Ellen McDonagh (Genomics England Curator)RASGRP2 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)RASGRP2 was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene