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Fetal anomalies v0.2298 | DNAJC12 | Zornitza Stark Marked gene: DNAJC12 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.2298 | DNAJC12 | Zornitza Stark Gene: dnajc12 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.2298 | DNAJC12 | Zornitza Stark Phenotypes for gene: DNAJC12 were changed from Hyperphenylalaninemia, Dystonia, and Intellectual Disability to Hyperphenylalaninemia, mild, non-BH4-deficient, MIM#617384 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.2297 | DNAJC12 | Zornitza Stark Classified gene: DNAJC12 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.2297 | DNAJC12 | Zornitza Stark Gene: dnajc12 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.2296 | DNAJC12 |
Zornitza Stark changed review comment from: Highly variable neurological phenotype, including ID, dystonia, parkinsonism. Treatable. Sources: Expert list; to: Highly variable neurological phenotype, including ID, dystonia, parkinsonism. Treatable. Clinical presentation is post-natal. Sources: Expert list |
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Fetal anomalies v0.2296 | DNAJC12 | Zornitza Stark edited their review of gene: DNAJC12: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.0 | DNAJC12 |
Zornitza Stark gene: DNAJC12 was added gene: DNAJC12 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: DNAJC12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAJC12 were set to Hyperphenylalaninemia, Dystonia, and Intellectual Disability |