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| Severe Paediatric Disorders v0.17 | GMPPB | Louise Daugherty Mode of inheritance for gene GMPPB was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.12 | GMPPB | Louise Daugherty reviewed gene: GMPPB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.11 | GMPPB | Louise Daugherty Publications for gene GMPPB were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.10 | GMPPB | Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14, 615350; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14, 615351; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, 615352 for gene: GMPPB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | GMPPB | Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14, 615350; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14, 615351; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, 615352 for gene: GMPPB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | GMPPB | Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14, 615350; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14, 615351; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, 615352 for gene: GMPPB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | GMPPB | Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14, 615350; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, 615352; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14, 615351 for gene: GMPPB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.7 | GMPPB | Louise Daugherty Source Next Generation Children Project was added to GMPPB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.5 | GMPPB |
Louise Daugherty Source Expert Review Green was added to GMPPB. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Severe Paediatric Disorders v0.4 | GMPPB |
Louise Daugherty gene: GMPPB was added gene: GMPPB was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: GMPPB was set to |
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