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Severe Paediatric Disorders v0.12 | MKS1 | Louise Daugherty reviewed gene: MKS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | MKS1 | Louise Daugherty Publications for gene MKS1 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | MKS1 | Louise Daugherty Mode of inheritance for gene MKS1 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | MKS1 | Louise Daugherty Added phenotypes Bardet-Biedl syndrome 13, 615990; Joubert syndrome 28, 617121; Meckel syndrome 1, 249000 for gene: MKS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | MKS1 | Louise Daugherty Added phenotypes Bardet-Biedl syndrome 13, 615990; Joubert syndrome 28, 617121; Meckel syndrome 1, 249000 for gene: MKS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | MKS1 | Louise Daugherty Added phenotypes Bardet-Biedl syndrome 13, 615990; Joubert syndrome 28, 617121; Meckel syndrome 1, 249000 for gene: MKS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | MKS1 | Louise Daugherty Added phenotypes Meckel syndrome 1, 249000; Joubert syndrome 28, 617121; Bardet-Biedl syndrome 13, 615990 for gene: MKS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | MKS1 | Louise Daugherty Source Next Generation Children Project was added to MKS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | MKS1 |
Louise Daugherty Source Expert Review Green was added to MKS1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | MKS1 |
Louise Daugherty gene: MKS1 was added gene: MKS1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: MKS1 was set to |