Activity

Filter

Cancel
Date Panel Item Activity
10 actions
Severe Paediatric Disorders v0.12 SLC39A14 Louise Daugherty reviewed gene: SLC39A14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 SLC39A14 Louise Daugherty Publications for gene SLC39A14 were updated from to 30847515
Severe Paediatric Disorders v0.10 SLC39A14 Louise Daugherty Added phenotypes Hypermanganesemia with dystonia 2, 617013; ?Hyperostosis cranalis interna, 144755 for gene: SLC39A14
Severe Paediatric Disorders v0.9 SLC39A14 Louise Daugherty Added phenotypes Hypermanganesemia with dystonia 2, 617013; ?Hyperostosis cranalis interna, 144755 for gene: SLC39A14
Severe Paediatric Disorders v0.9 SLC39A14 Louise Daugherty Added phenotypes Hypermanganesemia with dystonia 2, 617013; ?Hyperostosis cranalis interna, 144755 for gene: SLC39A14
Severe Paediatric Disorders v0.8 SLC39A14 Louise Daugherty Added phenotypes ?Hyperostosis cranalis interna, 144755; Hypermanganesemia with dystonia 2, 617013 for gene: SLC39A14
Severe Paediatric Disorders v0.8 SLC39A14 Louise Daugherty Mode of inheritance for gene SLC39A14 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Hypermanganesemia with dystonia 2, 617013; ?Hyperostosis cranalis interna, 144755 for gene: SLC39A14
Severe Paediatric Disorders v0.7 SLC39A14 Louise Daugherty Source Next Generation Children Project was added to SLC39A14.
Severe Paediatric Disorders v0.5 SLC39A14 Louise Daugherty Source Expert Review Green was added to SLC39A14.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 SLC39A14 Louise Daugherty gene: SLC39A14 was added
gene: SLC39A14 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: SLC39A14 was set to