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Severe Paediatric Disorders v1.159 | SLC6A19 | Tracy Lester reviewed gene: SLC6A19: Rating: GREEN; Mode of pathogenicity: None; Publications: 32644502; Phenotypes: pellagra, cerebellar ataxia, psychosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | SLC6A19 | Louise Daugherty reviewed gene: SLC6A19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | SLC6A19 | Louise Daugherty Publications for gene SLC6A19 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | SLC6A19 | Louise Daugherty Added phenotypes Iminoglycinuria, digenic, 242600; Hyperglycinuria, 138500; Hartnup disorder, 234500 for gene: SLC6A19 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | SLC6A19 | Louise Daugherty Added phenotypes Iminoglycinuria, digenic, 242600; Hyperglycinuria, 138500; Hartnup disorder, 234500 for gene: SLC6A19 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | SLC6A19 | Louise Daugherty Added phenotypes Iminoglycinuria, digenic, 242600; Hyperglycinuria, 138500; Hartnup disorder, 234500 for gene: SLC6A19 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | SLC6A19 | Louise Daugherty Added phenotypes Hyperglycinuria, 138500; Iminoglycinuria, digenic, 242600; Hartnup disorder, 234500 for gene: SLC6A19 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | SLC6A19 |
Louise Daugherty Mode of inheritance for gene SLC6A19 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Iminoglycinuria, digenic, 242600; Hyperglycinuria, 138500; Hartnup disorder, 234500 for gene: SLC6A19 |
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Severe Paediatric Disorders v0.7 | SLC6A19 | Louise Daugherty Source Next Generation Children Project was added to SLC6A19. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | SLC6A19 |
Louise Daugherty Source Expert Review Green was added to SLC6A19. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | SLC6A19 |
Louise Daugherty gene: SLC6A19 was added gene: SLC6A19 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: SLC6A19 was set to |