Familial hypoparathyroidism
Gene: PTHEnsemblGeneIds (GRCh38): ENSG00000152266
EnsemblGeneIds (GRCh37): ENSG00000152266
OMIM: 168450, Gene2Phenotype
PTH is in 6 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Multiple unrelated families reported with either mono- or bi-allelic variants in this gene and hypoparathyroidism.Created: 16 Apr 2022, 12:47 a.m. | Last Modified: 16 Apr 2022, 12:47 a.m.
Panel Version: 0.12943
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 Green
- NHS GMS
- Victorian Clinical Genetics Services
- Phenotypes
-
- familial isolated hypoparathyroidism due to impaired PTH secretion MONDO:0016000
- OMIM
- 168450
- Clinvar variants
- Variants in PTH
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: pth has been classified as Green List (High Evidence).
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: PTH were set to
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: pth has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: PTH was added gene: PTH was added to Familial hypoparathyroidism. Sources: NHS GMS Mode of inheritance for gene: PTH was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: PTH were set to familial isolated hypoparathyroidism due to impaired PTH secretion MONDO:0016000 Review for gene: PTH was set to GREEN