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  3. PTH
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Calcium and Phosphate disorders

Gene: PTH

Green List (high evidence)
PTH (parathyroid hormone)
EnsemblGeneIds (GRCh38): ENSG00000152266
EnsemblGeneIds (GRCh37): ENSG00000152266
OMIM: 168450, Gene2Phenotype
PTH is in 6 panels

2 reviews

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Multiple unrelated families reported with either mono- or bi-allelic variants in this gene and hypoparathyroidism.
Sources: Expert list
Created: 28 Nov 2022, 9:41 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Hypoparathyroidism, familial isolated 1, MIM# 146200

Publications

Created: 28 Nov 2022, 9:41 p.m.

Panel version: 0.66

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

Created: 16 Apr 2022, 12:47 a.m.
Last Modified: 16 Apr 2022, 12:47 a.m.
Panel version: Imported from Mendeliome panel version 0.12943

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypoparathyroidism, familial isolated 1, MIM# 146200
OMIM
168450
Clinvar variants
Variants in PTH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Nov 2022, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: pth has been classified as Green List (High Evidence).

28 Nov 2022, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Chirag Patel (Genetic Health Queensland)

gene: PTH was added gene: PTH was added to Renal abnormalities of calcium and phosphate metabolism. 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 PMID: 2212001, 1302009, 10523031, 35165722, 32421798 Phenotypes for gene: PTH were set to Hypoparathyroidism, familial isolated 1, MIM# 146200 Review for gene: PTH was set to GREEN