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Intellectual disability syndromic and non-syndromic v0.103 DNAJC12 Zornitza Stark Marked gene: DNAJC12 as ready
Intellectual disability syndromic and non-syndromic v0.103 DNAJC12 Zornitza Stark Gene: dnajc12 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.103 DNAJC12 Zornitza Stark Classified gene: DNAJC12 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.103 DNAJC12 Zornitza Stark Gene: dnajc12 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.102 DNAJC12 Zornitza Stark gene: DNAJC12 was added
gene: DNAJC12 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: DNAJC12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAJC12 were set to Hyperphenylalaninemia, mild, non-BH4-deficient, MIM#617384
Review for gene: DNAJC12 was set to GREEN
Added comment: Highly variable neurological phenotype, including ID, dystonia, parkinsonism. Treatable.
Sources: Expert list