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  2. Newborns additional phenotypes panel 1
  3. PTH
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Newborns additional phenotypes panel 1

Gene: PTH

Amber List (moderate evidence)
PTH (parathyroid hormone)
EnsemblGeneIds (GRCh38): ENSG00000152266
EnsemblGeneIds (GRCh37): ENSG00000152266
OMIM: 168450, Gene2Phenotype
PTH is in 3 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 7 Jul 2023, 9:25 a.m. | Last Modified: 7 Jul 2023, 9:25 a.m.
Panel Version: 0.31
PMID: 32207265 (4 AR 3 AD), PMID: 35165722 (1 AD, 1 AR) PMID: 32421798 (1 AR family)
Created: 7 Jul 2023, 9:25 a.m. | Last Modified: 7 Jul 2023, 9:25 a.m.
Panel Version: 0.31
Created: 7 Jul 2023, 9:25 a.m.
Last Modified: 7 Jul 2023, 9:25 a.m.
Panel version: 0.31

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • familial isolated hypoparathyroidism 1, Autosomal dominant
OMIM
168450
Clinvar variants
Variants in PTH
Penetrance
None
Panels with this gene

History Filter Activity

6 Feb 2024, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: PTH were changed from familial isolated hypoparathyroidism 1, Autosomal dominant to familial isolated hypoparathyroidism 1, Autosomal dominant

6 Feb 2024, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: PTH were changed from familial isolated hypoparathyroidism 1 to familial isolated hypoparathyroidism 1, Autosomal dominant

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to PTH. Added phenotypes familial isolated hypoparathyroidism 1 for gene: PTH Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

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

Mafalda Gomes (Genomics England Curator)

gene: PTH was added gene: PTH was added to Newborns additional phenotypes panel 1. Sources: Expert Review Green Mode of inheritance for gene: PTH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PTH were set to familial isolated hypoparathyroidism 1