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Prepair 1000+

Gene: PTH1R

Green List (high evidence)

PTH1R (parathyroid hormone 1 receptor)
EnsemblGeneIds (GRCh38): ENSG00000160801
EnsemblGeneIds (GRCh37): ENSG00000160801
OMIM: 168468, Gene2Phenotype
PTH1R is in 15 panels

1 review

Ee Ming Wong (Victorian Clinical Genetics Services)

Green List (high evidence)

1. Chondrodysplasia, Blomstrand type (MIM#215045)
- Lethal, characterized by a prematurely mineralised fetal skeleton
- Due to biallelic loss of function variants

2. Eiken syndrome (MIM#600002)
- Non-lethal congenital-onset, characterised by delayed bone mineralisation
- Ossification of bones improves with age (OMIM)
- Common features include ischiopubic hypoplasia, epiphyseal dysplasia, and extensive metacarpal pseudo-epiphyses
- Due to biallelic gain of function variants

MIM#600002 included as it seems to be severe
Created: 8 Jan 2025, 1:04 a.m. | Last Modified: 8 Jan 2025, 1:04 a.m.
Panel Version: 1.992

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Chondrodysplasia, Blomstrand type (MIM#215045); Eiken syndrome (MIM#600002)

Publications

Mode of pathogenicity
Other

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

16 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pth1r has been classified as Green List (High Evidence).

16 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PTH1R were changed from Chondrodysplasia, Blomstrand type, 215045 (3) to Chondrodysplasia, Blomstrand type (MIM#215045); Eiken syndrome (MIM#600002)

16 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PTH1R were set to

16 Jan 2025, Gel status: 3

Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of pathogenicity for gene: PTH1R was changed from to None

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PTH1R was added gene: PTH1R was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PTH1R was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PTH1R were set to Chondrodysplasia, Blomstrand type, 215045 (3)