PTH

parathyroid hormone
OMIM: 168450, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green PTH in Familial hypoparathyroidism


Level 2: Endocrinology
Version 3.5
Latest signed off version: v3.0 (30 Apr 2025)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hypoparathyroidism, autosomal dominant, 146200
  • Hypoparathyroidism, autosomal recessive, 146200
Amber PTH in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • FAMILIAL ISOLATED HYPOPARATHYROIDISM
Green PTH in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • FAMILIAL ISOLATED HYPOPARATHYROIDISM 146200