Osteopetrosis
Gene: RASGRP2
RASGRP2 variants are associated with Bleeding disorder, platelet-type, 18 (OMIM:615888). Since the publication of PMID:18709451 in 2008, there have not been any further reports of RASGRP2 variants being associated with Osteopetrosis, while many further publications have expanded the knowledge of RASGRP2 variants association with OMIM:615888 (PMIDs: 32041177; 34830306; 28637664; 32609603).Created: 13 Feb 2024, 4:15 p.m. | Last Modified: 13 Feb 2024, 4:15 p.m.
Panel Version: 1.34
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
Comment on phenotypes: Removing phenotype "?Bleeding disorder, platelet-type, 18 615888" as does not appear to be associated with OsteopetrosisCreated: 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
Tag Q1_24_expert_review tag was added to gene: RASGRP2.
Tag Q1_24_demote_red tag was added to gene: RASGRP2.
Publications for gene: RASGRP2 were set to
Phenotypes for gene: RASGRP2 were changed from none to osteopetrosis (disease) MONDO:0017198
Phenotypes for gene: RASGRP2 were changed from ?Bleeding disorder, platelet-type, 18 615888 to none
Phenotypes for gene: RASGRP2 were changed from ?Bleeding disorder, platelet-type, 18 615888 to ?Bleeding disorder, platelet-type, 18 615888
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