| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Brain Calcification v1.71 | PTH | Zornitza Stark Marked gene: PTH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.71 | PTH | Zornitza Stark Gene: pth has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.71 | PTH | Zornitza Stark Classified gene: PTH as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.71 | PTH | Zornitza Stark Gene: pth has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.51 | PTH |
Yetong Chen gene: PTH was added gene: PTH was added to Brain Calcification. Sources: Expert list Mode of inheritance for gene: PTH was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PTH were set to 29383229 Phenotypes for gene: PTH were set to Hypoparathyroidism, familial isolated 1, MIM# 146200 Review for gene: PTH was set to RED Added comment: Several publications report brain calcifications found in patients with hyperparathyroidism (e.g. PMID 29383229); however, none of them reports the genetic profiles of the patients. In addition, less than 10% of hyperparathyroidism cases are due to genetic causes. Thus, limited evidence suggests a causal role of the PTH gene in brain calcification. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||