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| Severe Paediatric Disorders v0.12 | SPG11 | Louise Daugherty reviewed gene: SPG11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.11 | SPG11 | Louise Daugherty Publications for gene SPG11 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.10 | SPG11 | Louise Daugherty Added phenotypes Spastic paraplegia 11, autosomal recessive, 604360; Charcot-Marie-Tooth disease, axonal, type 2X, 616668; Amyotrophic lateral sclerosis 5, juvenile, 602099 for gene: SPG11 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | SPG11 | Louise Daugherty Added phenotypes Spastic paraplegia 11, autosomal recessive, 604360; Charcot-Marie-Tooth disease, axonal, type 2X, 616668; Amyotrophic lateral sclerosis 5, juvenile, 602099 for gene: SPG11 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | SPG11 | Louise Daugherty Added phenotypes Spastic paraplegia 11, autosomal recessive, 604360; Charcot-Marie-Tooth disease, axonal, type 2X, 616668; Amyotrophic lateral sclerosis 5, juvenile, 602099 for gene: SPG11 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | SPG11 | Louise Daugherty Added phenotypes Spastic paraplegia 11, autosomal recessive, 604360; Amyotrophic lateral sclerosis 5, juvenile, 602099; Charcot-Marie-Tooth disease, axonal, type 2X, 616668 for gene: SPG11 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | SPG11 |
Louise Daugherty Mode of inheritance for gene SPG11 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Spastic paraplegia 11, autosomal recessive, 604360; Charcot-Marie-Tooth disease, axonal, type 2X, 616668; Amyotrophic lateral sclerosis 5, juvenile, 602099 for gene: SPG11 |
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| Severe Paediatric Disorders v0.7 | SPG11 | Louise Daugherty Source Next Generation Children Project was added to SPG11. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.5 | SPG11 |
Louise Daugherty Source Expert Review Green was added to SPG11. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Severe Paediatric Disorders v0.4 | SPG11 |
Louise Daugherty gene: SPG11 was added gene: SPG11 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: SPG11 was set to |
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