RASGRP2

RAS guanyl releasing protein 2
OMIM: 605577, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green RASGRP2 in Bleeding and Platelet Disorders


Level 2: Haematological disorders
Version 1.43

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Bleeding disorder, platelet-type, 18, MIM# 615888

Green RASGRP2 in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.140

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green RASGRP2 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bleeding disorder, platelet-type, 18 (MIM#615888)

Red RASGRP2 in Osteopetrosis


Level 2: Skeletal disorders
Version 0.34

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Bleeding disorder, platelet-type, 18 - MIM#615888
  • Osteopetrosis (disease) MONDO:0017198

Green RASGRP2 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.285

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Bleeding disorder, platelet-type, 18 615888, also with osteopetrosis like bone abnormalities and neurodevelopmental defects
  • Bleeding disorder, platelet-type, 18 615888

Red RASGRP2 in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Bleeding disorder, platelet-type, 18 - MIM#615888

Green RASGRP2 in Transplant Co-Morbidity Superpanel


Level 2: Screening
Version 0.18

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Bleeding disorder, platelet-type, 18, MIM# 615888