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Severe Paediatric Disorders v0.12 | SSR4 | Louise Daugherty reviewed gene: SSR4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | SSR4 | Louise Daugherty Publications for gene SSR4 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | SSR4 | Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type Iy, 300934 for gene: SSR4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | SSR4 | Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type Iy, 300934 for gene: SSR4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | SSR4 | Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type Iy, 300934 for gene: SSR4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | SSR4 | Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type Iy, 300934 for gene: SSR4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | SSR4 |
Louise Daugherty Mode of inheritance for gene SSR4 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Congenital disorder of glycosylation, type Iy, 300934 for gene: SSR4 |
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Severe Paediatric Disorders v0.7 | SSR4 | Louise Daugherty Source Next Generation Children Project was added to SSR4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | SSR4 |
Louise Daugherty Source Expert Review Green was added to SSR4. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | SSR4 |
Louise Daugherty gene: SSR4 was added gene: SSR4 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: SSR4 was set to |