Brain Calcification
Gene: PTS
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 listCreated: 24 Apr 2023, 3:33 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640
Publications
Gene: pts has been classified as Red List (Low Evidence).
Gene: pts has been classified as Red List (Low Evidence).
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