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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 |
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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 |