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 2.15
Latest signed off version: v2.14 (1 May 2024)

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 4.1
Latest signed off version: v4.0 (1 May 2024)

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


Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

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