PTHLH

parathyroid hormone like hormone
OMIM: 168470, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green PTHLH in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Brachydactyly, type E2, MIM# 613382

Green PTHLH in Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy


Level 2: Endocrine disorders
Version 0.13

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green PTHLH in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.285

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Brachydactyly, type E2 613382
  • Brachydactyly, type E2 613382

Green PTHLH in Hand and foot malformations


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.74

Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Brachydactyly, type E2 613382

    Amber PTHLH in Fetal anomalies


    Version 1.255

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Genomics England PanelApp
    Phenotypes
    • Brachydactyly, type E2, MIM# 613382