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DDG2P

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

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: probable.
Created: 19 Nov 2018, 11:30 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Amber
Phenotypes
  • FAMILIAL ISOLATED HYPOPARATHYROIDISM 146200
OMIM
168450
Clinvar variants
Variants in PTH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: probabl

19 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: PTH was added gene: PTH was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PTH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTH were set to 2212001; 1302009; 10523031; 3005800 Phenotypes for gene: PTH were set to FAMILIAL ISOLATED HYPOPARATHYROIDISM 146200