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Severe Paediatric Disorders v0.12 RUNX2 Louise Daugherty reviewed gene: RUNX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 RUNX2 Louise Daugherty Publications for gene RUNX2 were updated from to 30847515
Severe Paediatric Disorders v0.10 RUNX2 Louise Daugherty Added phenotypes Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly, 156510; Cleidocranial dysplasia, 119600; Cleidocranial dysplasia, forme fruste, dental anomalies only, 119600; Cleidocranial dysplasia, forme fruste, with brachydactyly, 119600 for gene: RUNX2
Severe Paediatric Disorders v0.9 RUNX2 Louise Daugherty Added phenotypes Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly, 156510; Cleidocranial dysplasia, 119600; Cleidocranial dysplasia, forme fruste, dental anomalies only, 119600; Cleidocranial dysplasia, forme fruste, with brachydactyly, 119600 for gene: RUNX2
Severe Paediatric Disorders v0.9 RUNX2 Louise Daugherty Added phenotypes Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly, 156510; Cleidocranial dysplasia, 119600; Cleidocranial dysplasia, forme fruste, dental anomalies only, 119600; Cleidocranial dysplasia, forme fruste, with brachydactyly, 119600 for gene: RUNX2
Severe Paediatric Disorders v0.8 RUNX2 Louise Daugherty Added phenotypes Cleidocranial dysplasia, forme fruste, with brachydactyly, 119600; Cleidocranial dysplasia, 119600; Cleidocranial dysplasia, forme fruste, dental anomalies only, 119600; Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly, 156510 for gene: RUNX2
Severe Paediatric Disorders v0.8 RUNX2 Louise Daugherty Mode of inheritance for gene RUNX2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly, 156510; Cleidocranial dysplasia, 119600; Cleidocranial dysplasia, forme fruste, dental anomalies only, 119600; Cleidocranial dysplasia, forme fruste, with brachydactyly, 119600 for gene: RUNX2
Severe Paediatric Disorders v0.7 RUNX2 Louise Daugherty Source Next Generation Children Project was added to RUNX2.
Severe Paediatric Disorders v0.5 RUNX2 Louise Daugherty Source Expert Review Green was added to RUNX2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 RUNX2 Louise Daugherty gene: RUNX2 was added
gene: RUNX2 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: RUNX2 was set to