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Severe Paediatric Disorders v0.12 | POMK | Louise Daugherty reviewed gene: POMK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | POMK | Louise Daugherty Publications for gene POMK were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | POMK | Louise Daugherty Mode of inheritance for gene POMK was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | POMK | Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249; ?Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12, 616094 for gene: POMK | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | POMK | Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249; ?Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12, 616094 for gene: POMK | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | POMK | Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249; ?Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12, 616094 for gene: POMK | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | POMK | Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249; ?Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12, 616094 for gene: POMK | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | POMK | Louise Daugherty Source Next Generation Children Project was added to POMK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | POMK |
Louise Daugherty Source Expert Review Green was added to POMK. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | POMK |
Louise Daugherty gene: POMK was added gene: POMK was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: POMK was set to |