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Severe Paediatric Disorders v0.12 | PNPLA6 | Louise Daugherty reviewed gene: PNPLA6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | PNPLA6 | Louise Daugherty Publications for gene PNPLA6 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | PNPLA6 | Louise Daugherty Mode of inheritance for gene PNPLA6 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | PNPLA6 | Louise Daugherty Added phenotypes ?Laurence-Moon syndrome, 245800; Spastic paraplegia 39, autosomal recessive, 612020; Boucher-Neuhauser syndrome, 215470; Oliver-McFarlane syndrome, 275400 for gene: PNPLA6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | PNPLA6 | Louise Daugherty Added phenotypes ?Laurence-Moon syndrome, 245800; Spastic paraplegia 39, autosomal recessive, 612020; Boucher-Neuhauser syndrome, 215470; Oliver-McFarlane syndrome, 275400 for gene: PNPLA6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | PNPLA6 | Louise Daugherty Added phenotypes ?Laurence-Moon syndrome, 245800; Spastic paraplegia 39, autosomal recessive, 612020; Boucher-Neuhauser syndrome, 215470; Oliver-McFarlane syndrome, 275400 for gene: PNPLA6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | PNPLA6 | Louise Daugherty Added phenotypes ?Laurence-Moon syndrome, 245800; Spastic paraplegia 39, autosomal recessive, 612020; Oliver-McFarlane syndrome, 275400; Boucher-Neuhauser syndrome, 215470 for gene: PNPLA6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | PNPLA6 | Louise Daugherty Source Next Generation Children Project was added to PNPLA6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | PNPLA6 |
Louise Daugherty Source Expert Review Green was added to PNPLA6. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | PNPLA6 |
Louise Daugherty gene: PNPLA6 was added gene: PNPLA6 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: PNPLA6 was set to |