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Severe Paediatric Disorders v1.25 | HSPG2 | Arina Puzriakova Phenotypes for gene: HSPG2 were changed from Dyssegmental dysplasia, Silverman-Handmaker type, 224410; Schwartz-Jampel syndrome, type 1, 255800 to Schwartz-Jampel syndrome, type 1, OMIM:255800; Schwartz-Jampel syndrome, MONDO:0009717; Dyssegmental dysplasia, Silverman-Handmaker type, OMIM:224410; Silverman-Handmaker type dyssegmental dysplasia, MONDO:0009140 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.17 | HSPG2 | Louise Daugherty Mode of inheritance for gene HSPG2 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | HSPG2 | Louise Daugherty reviewed gene: HSPG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | HSPG2 | Louise Daugherty Publications for gene HSPG2 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | HSPG2 | Louise Daugherty Added phenotypes Dyssegmental dysplasia, Silverman-Handmaker type, 224410; Schwartz-Jampel syndrome, type 1, 255800 for gene: HSPG2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | HSPG2 | Louise Daugherty Added phenotypes Dyssegmental dysplasia, Silverman-Handmaker type, 224410; Schwartz-Jampel syndrome, type 1, 255800 for gene: HSPG2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | HSPG2 | Louise Daugherty Added phenotypes Dyssegmental dysplasia, Silverman-Handmaker type, 224410; Schwartz-Jampel syndrome, type 1, 255800 for gene: HSPG2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | HSPG2 | Louise Daugherty Added phenotypes Schwartz-Jampel syndrome, type 1, 255800; Dyssegmental dysplasia, Silverman-Handmaker type, 224410 for gene: HSPG2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | HSPG2 | Louise Daugherty Source Next Generation Children Project was added to HSPG2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | HSPG2 |
Louise Daugherty Source Expert Review Green was added to HSPG2. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | HSPG2 |
Louise Daugherty gene: HSPG2 was added gene: HSPG2 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: HSPG2 was set to |