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| Skeletal dysplasia v1.159 | RASGRP2 |
Eleanor Williams commented on gene: RASGRP2: PMID: 18709451 - Kilic et al 2009 - 3 families with 4 individuals with Leukocyte adhesion deficiency (LAD) type III (severe recurrent infections, leukocytosis, and increased bleeding tendency). All patients had increased bone density on X-ray similar to that seen in patients with osteopetrosis, and variants in the CalDAG-GEF1 gene (now called RASGRP2). A splice junction mutation was found in families 1 and 3. The patient from family 2 had very low levels of CalDAG-GEF1. . Knock out CalDAG-GEFI deficient mice exhibit the same platelet and neutrophil adhesion defect but NO abnormalities in bone density on X-ray. PMID: 24958846 - Canault et al 2014 - three siblings affected by severe bleeding - whole-exome sequencing identified the culprit mutation (cG742T) in RASGRP2 - couldn't find any mention of a bone density/skeletal dysplasia phenotype. |
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| Skeletal dysplasia v1.153 | RASGRP2 |
Eleanor Williams Added phenotypes Bleeding disorder, platelet-type, 18 615888 for gene: RASGRP2 Publications for gene RASGRP2 were changed from 18709451; 24958846 to 24958846; 18709451 |
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| Skeletal dysplasia v1.147 | RASGRP2 | Tracy Lester reviewed gene: RASGRP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 18709451, 24958846; Phenotypes: Bleeding disorder, platelet-type, 18 615888; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.146 | RASGRP2 | Eleanor Williams reviewed gene: RASGRP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.145 | RASGRP2 |
Eleanor Williams Source NHS GMS was added to RASGRP2. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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