Brain Calcification
Gene: PTHEnsemblGeneIds (GRCh38): ENSG00000152266
EnsemblGeneIds (GRCh37): ENSG00000152266
OMIM: 168450, Gene2Phenotype
PTH is in 6 panels
1 review
Yetong Chen (University of Melbourne)
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 listCreated: 24 Apr 2023, 2:40 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hypoparathyroidism, familial isolated 1, MIM# 146200
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Hypoparathyroidism, familial isolated 1, MIM# 146200
- OMIM
- 168450
- Clinvar variants
- Variants in PTH
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pth has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pth has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Yetong Chen (University of Melbourne)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