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| Severe Paediatric Disorders v0.12 | POMGNT1 | Louise Daugherty reviewed gene: POMGNT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.11 | POMGNT1 | Louise Daugherty Publications for gene POMGNT1 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.11 | POMGNT1 | Louise Daugherty Mode of inheritance for gene POMGNT1 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.10 | POMGNT1 | Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, 613151; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157; Retinitis pigmentosa 76, 617123 for gene: POMGNT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | POMGNT1 | Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, 613151; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157; Retinitis pigmentosa 76, 617123 for gene: POMGNT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | POMGNT1 | Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, 613151; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157; Retinitis pigmentosa 76, 617123 for gene: POMGNT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | POMGNT1 | Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280; Retinitis pigmentosa 76, 617123; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, 613151; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157 for gene: POMGNT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.7 | POMGNT1 | Louise Daugherty Source Next Generation Children Project was added to POMGNT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.5 | POMGNT1 |
Louise Daugherty Source Expert Review Green was added to POMGNT1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Severe Paediatric Disorders v0.4 | POMGNT1 |
Louise Daugherty gene: POMGNT1 was added gene: POMGNT1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: POMGNT1 was set to |
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