1. Genes and Genomic Entities
  2. PTH1R

PTH1R

parathyroid hormone 1 receptor
OMIM: 168468, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
No list PTH1R in Fetal hydrops

Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.95

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • CHONDRODYSPLASIA, BLOMSTRAND TYPE
  • BOCD
Green PTH1R in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.34
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Failure of tooth eruption, primary 125350
    • Eiken syndrome 600002
    • Metaphyseal chondrodysplasia, Murk Jansen type 156400
    • Chondrodysplasia, Blomstrand type 215045
    Green PTH1R in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CHONDRODYSPLASIA BLOMSTRAND TYPE
    • EIKEN SKELETAL DYSPLASIA
    • JANSEN METAPHYSEAL CHONDRODYSPLASIA
    • PRIMARY FAILURE OF TOOTH ERUPTION
    No list PTH1R in Osteogenesis imperfecta


    Level 2: Musculoskeletal
    Version 5.4
    Latest signed off version: v5.0 (30 Apr 2025)

    		review Not set
    Sources
    • Expert Review Removed
    • Emory Genetics Laboratory
    Phenotypes
    • Disproportionate Short Stature
    Tags
    • curated_removed
    Green PTH1R in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • JANSEN METAPHYSEAL CHONDRODYSPLASIA 156400
    • EIKEN SKELETAL DYSPLASIA 600002
    • PRIMARY FAILURE OF TOOTH ERUPTION 125350
    • CHONDRODYSPLASIA BLOMSTRAND TYPE 215045
    Amber PTH1R in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Metaphyseal chondrodysplasia, Murk Jansen type, 156400
    • Chondrodysplasia, Blomstrand type, 215045
    • Eiken syndrome, 600002
    • Failure of tooth eruption, primary, 125350
    Green PTH1R in Osteopetrosis


    Level 2: Musculoskeletal
    Version 1.38
    Latest signed off version: v1.1 (21 Sep 2020)

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Chondrodysplasia, Blomstrand type OMIM:215045
    • Metaphyseal chondrodysplasia, Murk Jansen type OMIM:156400