Osteopetrosis

Gene: RASGRP2

Green List (high evidence)

RASGRP2 (RAS guanyl releasing protein 2)
EnsemblGeneIds (GRCh38): ENSG00000068831
EnsemblGeneIds (GRCh37): ENSG00000068831
OMIM: 605577, Gene2Phenotype
RASGRP2 is in 5 panels

2 reviews

Zornitza Stark (Australian Genomics)

Red List (low evidence)

The evidence for association with osteopetrosis-like features appears limited to a single report from 2008.

18709451 Kilic et al 2008 - report one individual with homozygous RASGRP2 variant and significant bleeding issues resulting in death at the age of 18 months. The authors report that bone x-ray at Day 20 of life showed that the extremities
"demonstrated increased mineral density, very similar to those seen in patients with osteopetrosis".

No other case reports of osteopetrosis. The primary phenotype associated with this gene is significant bleeding issues secondary to platelet dysfunction.
Created: 24 Feb 2022, 9:03 p.m. | Last Modified: 24 Feb 2022, 9:03 p.m.
Panel Version: 1.27

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bleeding disorder, platelet-type, 18 - MIM#615888; Osteopetrosis (disease) MONDO:0017198

Publications

Eleanor Williams (Genomics England Curator)

Comment on phenotypes: Removing phenotype "?Bleeding disorder, platelet-type, 18 615888" as does not appear to be associated with Osteopetrosis
Created: 15 Mar 2021, 12:49 p.m. | Last Modified: 15 Mar 2021, 12:49 p.m.
Panel Version: 1.15
This gene has been added to the panel as green on the recommendation of GMS specialist disease group experts.
Created: 20 Aug 2020, 4:32 p.m. | Last Modified: 20 Aug 2020, 4:32 p.m.
Panel Version: 0.3

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • osteopetrosis (disease) MONDO:0017198
OMIM
605577
Clinvar variants
Variants in RASGRP2
Penetrance
None
Panels with this gene

History Filter Activity

15 Mar 2021, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: RASGRP2 were changed from none to osteopetrosis (disease) MONDO:0017198

15 Mar 2021, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: RASGRP2 were changed from ?Bleeding disorder, platelet-type, 18 615888 to none

15 Mar 2021, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: RASGRP2 were changed from ?Bleeding disorder, platelet-type, 18 615888 to ?Bleeding disorder, platelet-type, 18 615888

20 Aug 2020, Gel status: 3

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

Catherine Snow (Genomics England)

gene: RASGRP2 was added gene: RASGRP2 was added to Osteopetrosis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: RASGRP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RASGRP2 were set to ?Bleeding disorder, platelet-type, 18 615888