Bleeding and platelet disorders
Gene: RASGRP2EnsemblGeneIds (GRCh38): ENSG00000068831
EnsemblGeneIds (GRCh37): ENSG00000068831
OMIM: 605577, Gene2Phenotype
RASGRP2 is in 5 panels
5 reviews
Steve Keeney (Central Manchester Foundation Trust)
Gene rating submitted by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test groupCreated: 18 Feb 2019, 11:23 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
615888 ?Bleeding disorder, platelet-type, 18
Mandy nesbitt (Healthcare Professional)
Gene rating submitted by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group.Created: 13 Feb 2019, 11:32 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
615888 ?Bleeding disorder, platelet-type, 18
Michael Mitchell (Guy's & St. Thomas' NHS Trust)
Gene rating submitted by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group.Created: 7 Feb 2019, 1:21 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
615888 ?Bleeding disorder, platelet-type, 18
Variants in this GENE are reported as part of current diagnostic practice
Louise Daugherty (Genomics England Curator)
Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RASGRP2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 615888 ?Bleeding disorder, platelet-type, 18; PMID(s): none submittedCreated: 18 Feb 2019, 11:28 a.m.
Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RASGRP2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 615888 ?Bleeding disorder, platelet-type, 18; PMID(s): none submittedCreated: 13 Feb 2019, 11:34 a.m.
Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RASGRP2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 615888 ?Bleeding disorder, platelet-type, 18; PMID(s): none submittedCreated: 7 Feb 2019, 1:28 p.m.
Initial gene list (Consensus Genes for Panels 17.12.18_Haem_WWMGLH_v3.xlxs) collated by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RASGRP2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene as part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 615888 ?Bleeding disorder, platelet-type, 18; PMID(s): 27235135; 28637664; 28762304Created: 5 Feb 2019, 1:26 p.m.
Carl Fratter (Oxford University Hospitals NHS Trust)
Gene rating submitted by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group.Created: 5 Feb 2019, 11:19 a.m.
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- North West GLH
- Yorkshire and North East GLH
- London South GLH
- NHS GMS
- Expert Review Green
- Wessex and West Midlands GLH
- Phenotypes
-
- 615888 ?Bleeding disorder, platelet-type, 18
- OMIM
- 605577
- Clinvar variants
- Variants in RASGRP2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes 615888 ?Bleeding disorder, platelet-type, 18 for gene: RASGRP2
Added New Source
Louise Daugherty (Genomics England Curator)Source North West GLH was added to RASGRP2.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes 615888 ?Bleeding disorder, platelet-type, 18 for gene: RASGRP2
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to RASGRP2.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes 615888 ?Bleeding disorder, platelet-type, 18 for gene: RASGRP2
Added New Source
Louise Daugherty (Genomics England Curator)Source London South GLH was added to RASGRP2.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to RASGRP2.
Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Green was added to RASGRP2. Mode of inheritance for gene RASGRP2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 615888 ?Bleeding disorder, platelet-type, 18 for gene: RASGRP2 Publications for gene RASGRP2 were changed from to 28637664; 27235135; 28762304 Rating Changed from Red List (low evidence) to Green List (high evidence)
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: RASGRP2 was added gene: RASGRP2 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: RASGRP2 was set to