| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Neurotransmitter Defects v0.30 | DNAJC12 | Zornitza Stark Marked gene: DNAJC12 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurotransmitter Defects v0.30 | DNAJC12 | Zornitza Stark Gene: dnajc12 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurotransmitter Defects v0.30 | DNAJC12 | Zornitza Stark Classified gene: DNAJC12 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurotransmitter Defects v0.30 | DNAJC12 | Zornitza Stark Gene: dnajc12 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurotransmitter Defects v0.29 | DNAJC12 |
Zornitza Stark gene: DNAJC12 was added gene: DNAJC12 was added to Neurotransmitter Defects. Sources: Expert list Mode of inheritance for gene: DNAJC12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAJC12 were set to 28132689; 30139987; 28892570 Phenotypes for gene: DNAJC12 were set to Hyperphenylalaninemia, mild, non-BH4-deficient, MIM# 617384 Review for gene: DNAJC12 was set to GREEN Added comment: Over 10 families reported with non-BH4-deficient hyperphenylalaninemia (HPANBH4), an autosomal recessive disorder characterised by increased serum phenylalanine (HPA) usually detected by newborn screening and associated with highly variable neurologic defects, including movement abnormalities, such as dystonia, and variably impaired intellectual development. Laboratory analysis shows dopamine and serotonin deficiencies in the CSF, and normal tetrahydrobiopterin (BH4) metabolism. Treatment with BH4 and neurotransmitter precursors can lead to clinical improvement or even prevent the neurologic defects if started in infancy. Can present with juvenile- or adult-onset dopa-responsive nonprogressive parkinsonism. Sources: Expert list |
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