1. Genes and Genomic Entities
  2. PTH1R

PTH1R

parathyroid hormone 1 receptor
OMIM: 168468, Gene2Phenotype

8 panels

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

Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.64

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

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.56
Latest signed off version: v4.0 (22 Mar 2023)

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


    Version 3.155
    Latest signed off version: v3.0 (22 Mar 2023)

    		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 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 4.5
    Latest signed off version: v4.0 (22 Mar 2023)

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


    Version 3.87
    Latest signed off version: v3.1 (22 Mar 2023)

    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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.532
    Latest signed off version: v5.0 (22 Mar 2023)

    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 Severe Paediatric Disorders


    Version 1.184

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Eiken syndrome, 600002
    • Failure of tooth eruption, primary, 125350
    • Metaphyseal chondrodysplasia, Murk Jansen type, 156400
    • Chondrodysplasia, Blomstrand type, 215045
    Green PTH1R in Osteopetrosis

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 1.34
    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