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Severe Paediatric Disorders v1.50 HMGA2 Arina Puzriakova Phenotypes for gene: HMGA2 were changed from Sturge-Weber syndrome, somatic, mosaic, 185300; Capillary malformations, congenital, 1, somatic, mosaic, 163000 to Silver-Russell syndrome 5, OMIM:618908; Silver-Russell syndrome 5, MONDO:0020795
Severe Paediatric Disorders v0.12 HMGA2 Louise Daugherty reviewed gene: HMGA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 HMGA2 Louise Daugherty Publications for gene HMGA2 were updated from to 30847515
Severe Paediatric Disorders v0.10 HMGA2 Louise Daugherty Added phenotypes Sturge-Weber syndrome, somatic, mosaic, 185300; Capillary malformations, congenital, 1, somatic, mosaic, 163000 for gene: HMGA2
Severe Paediatric Disorders v0.9 HMGA2 Louise Daugherty Added phenotypes Sturge-Weber syndrome, somatic, mosaic, 185300; Capillary malformations, congenital, 1, somatic, mosaic, 163000 for gene: HMGA2
Severe Paediatric Disorders v0.9 HMGA2 Louise Daugherty Added phenotypes Sturge-Weber syndrome, somatic, mosaic, 185300; Capillary malformations, congenital, 1, somatic, mosaic, 163000 for gene: HMGA2
Severe Paediatric Disorders v0.8 HMGA2 Louise Daugherty Added phenotypes Capillary malformations, congenital, 1, somatic, mosaic, 163000; Sturge-Weber syndrome, somatic, mosaic, 185300 for gene: HMGA2
Severe Paediatric Disorders v0.8 HMGA2 Louise Daugherty Mode of inheritance for gene HMGA2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Sturge-Weber syndrome, somatic, mosaic, 185300; Capillary malformations, congenital, 1, somatic, mosaic, 163000 for gene: HMGA2
Severe Paediatric Disorders v0.7 HMGA2 Louise Daugherty Source Next Generation Children Project was added to HMGA2.
Severe Paediatric Disorders v0.5 HMGA2 Louise Daugherty Source Expert Review Red was added to HMGA2.
Severe Paediatric Disorders v0.4 HMGA2 Louise Daugherty gene: HMGA2 was added
gene: HMGA2 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: HMGA2 was set to