| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Brain Calcification v1.71 | PTS | Zornitza Stark Marked gene: PTS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.71 | PTS | Zornitza Stark Gene: pts has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.71 | PTS | Zornitza Stark Classified gene: PTS as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.71 | PTS | Zornitza Stark Gene: pts has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.51 | PTS |
Yetong Chen gene: PTS was added gene: PTS was added to Brain Calcification. Sources: Expert list Mode of inheritance for gene: PTS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTS were set to 16601879; 32734340 Phenotypes for gene: PTS were set to Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640 Review for gene: PTS was set to RED Added comment: Although brain calcification might be seen in patients with BH4 deficiency, none of the papers mentions PTS variants found in the affected patients. Further, there are multiple genes that can cause BH4 deficiency, of which PTS is one of them. The suggested literature, PMID 16601879, reports a BH4 deficiency patient with brain calcification (No.544). However, the mutation analysis was not done for this patient. Insufficient evidence suggests the causal role of the PTS gene in brain calcification. Sources: Expert list |
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