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Brain Calcification v1.70 QDPR Zornitza Stark Marked gene: QDPR as ready
Brain Calcification v1.70 QDPR Zornitza Stark Gene: qdpr has been classified as Red List (Low Evidence).
Brain Calcification v1.70 QDPR Zornitza Stark Classified gene: QDPR as Red List (low evidence)
Brain Calcification v1.70 QDPR Zornitza Stark Gene: qdpr has been classified as Red List (Low Evidence).
Brain Calcification v1.51 QDPR Yetong Chen changed review comment from: There is insufficient evidence supporting the causal role of the QDPR gene in brain calcification.
Sources: Expert list; to: There is insufficient evidence supporting the causal role of the QDPR gene in brain calcification.
The suggested literature (PMID 2135679) is not accessible in PubMed. A similar paper, PMID 2785251, reports intracranial calcification in a patient with dihydropteridine reductase deficiency. DNA sequencing was not available when the case was reported.
Sources: Expert list
Brain Calcification v1.51 QDPR Yetong Chen gene: QDPR was added
gene: QDPR was added to Brain Calcification. Sources: Expert list
Mode of inheritance for gene: QDPR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: QDPR were set to 2135679
Phenotypes for gene: QDPR were set to Dihydropteridine Reductase (DHPR) Deficiency, MIM* 612676
Review for gene: QDPR was set to RED
Added comment: There is insufficient evidence supporting the causal role of the QDPR gene in brain calcification.
Sources: Expert list