PTH

parathyroid hormone
OMIM: 168450, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Red PTH in Brain Calcification


Level 2: Neurology and neurodevelopmental disorders
Version 1.96

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Hypoparathyroidism, familial isolated 1, MIM# 146200

    Green PTH in Mendeliome


    Version 1.1891

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hypoparathyroidism, familial isolated 1, MIM# 146200

    Green PTH in Calcium and Phosphate disorders


    Level 2: Renal and urinary tract disorders; Endocrine disorders
    Version 1.24

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hypoparathyroidism, familial isolated 1, MIM# 146200

    Red PTH in Fetal anomalies


    Version 1.255

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    Phenotypes
    • Hypoparathyroidism, familial isolated 1, MIM# 146200

    Green PTH in Familial hypoparathyroidism

    Level 3: Disorders of calcium homeostasis
    Level 2: Endocrine disorders
    Version 1.3

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Victorian Clinical Genetics Services
    Phenotypes
    • familial isolated hypoparathyroidism due to impaired PTH secretion MONDO:0016000

    Green PTH in Renal Tubulopathies and related disorders


    Level 2: Renal and urinary tract disorders
    Version 1.14

    Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Expert Review Green
    • Expert list
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hypoparathyroidism, familial isolated 1, MIM# 146200