PTHLH

parathyroid hormone like hormone
OMIM: 168470, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Red PTHLH in VACTERL-like phenotypes

Level 3: Limb disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.35

review Not set
Sources
  • Emory Genetics Laboratory
Green PTHLH in Limb disorders


Level 2: Musculoskeletal
Version 7.25
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • London South East RGC GSTT
    • Viapath
    Phenotypes
    • Brachydactyly, type E2 613382
    Green PTHLH in Skeletal dysplasia


    Level 2: Musculoskeletal
    Version 8.40
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Brachydactyly, type E2 613382
    • Brachydactyly, type E2 613382
    Green PTHLH in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.185
    Latest signed off version: v6.0 (30 Apr 2025)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • BRACHYDACTYLY, TYPE E2
    • CLUBBING WITH SKELETAL DYSPLASIA INC ACROOSTEOLYSIS
    Green PTHLH in DDG2P


    Version 6.447
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • BRACHYDACTYLY, TYPE E2 613382
    • CLUBBING WITH SKELETAL DYSPLASIA INC ACROOSTEOLYSIS
    Amber PTHLH in Intellectual disability


    Level 2: Developmental disorders
    Version 9.370
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Humoral hypercalcemia of malignancy
    • Brachydactyly, type E2, 613382