PTHLH:Ensemblv90

parathyroid hormone like hormone
OMIM: 168470, ClinGen, DECIPHER

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green PTHLH in Mendeliome


Version 1.3802

1 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 0.33

1 review Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Brachydactyly, type E2, MIM# 613382

Green PTHLH in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.365

1 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 0.80

Component of the following Super Panels:

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

    Amber PTHLH in Fetal anomalies


    Version 1.482

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

    Green PTHLH in Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy


    Level 2: Endocrine disorders
    Version 1.0

    1 review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Brachydactyly, type E2, MIM# 613382

    Green PTHLH in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 1.0

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

    Green PTHLH in Hand and foot malformations


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.0

    0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Brachydactyly, type E2 613382