PTH

parathyroid hormone
OMIM: 168450, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green PTH in Familial hypoparathyroidism

Level 3: Disorders of calcium homeostasis
Level 2: Endocrine disorders
Version 2.5
Latest signed off version: v2.2 (25 Feb 2020)

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


Version 2.1
Latest signed off version: v2.0 (22 Mar 2022)

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

Amber PTH in DDG2P


Version 3.1
Latest signed off version: v3.0 (22 Mar 2022)

Component of the following Super Panels:

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