Osteopetrosis
Gene: RASGRP2

RASGRP2 (RAS guanyl releasing protein 2)
EnsemblGeneIds (GRCh38): ENSG00000068831
EnsemblGeneIds (GRCh37): ENSG00000068831
OMIM: 605577, Gene2Phenotype
RASGRP2 is in 7 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

The evidence for association with osteopetrosis is limited.
Created: 24 Feb 2022, 8:59 p.m. | Last Modified: 24 Feb 2022, 8:59 p.m.

Panel Version: 0.9

Phenotypes
Osteopetrosis (disease) MONDO:0017198

Publications

18709451

Created: 24 Feb 2022, 8:59 p.m.
Last Modified: 24 Feb 2022, 8:59 p.m.
Panel version: 0.9

Krithika Murali (Victorian Clinical Genetics Services)

I don't know

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. Phenotype is significant bleeding issues secondary to platelet dysfunction.
Created: 24 Feb 2022, 1:50 a.m. | Last Modified: 24 Feb 2022, 1:50 a.m.

Panel Version: 0.9

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Bleeding disorder, platelet-type, 18 - MIM#615888

Publications

Created: 24 Feb 2022, 1:50 a.m.
Last Modified: 24 Feb 2022, 1:50 a.m.
Panel version: 0.9

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Victorian Clinical Genetics Services

Phenotypes

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

OMIM

605577

Clinvar variants

Variants in RASGRP2

Penetrance

None

Publications

18709451

Panels with this gene