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  3. PTH2R
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Rare syndromic craniosynostosis or isolated multisuture synostosis

Gene: PTH2R

Red List (low evidence)
PTH2R (parathyroid hormone 2 receptor)
EnsemblGeneIds (GRCh38): ENSG00000144407
EnsemblGeneIds (GRCh37): ENSG00000144407
OMIM: 601469, Gene2Phenotype
PTH2R is in 1 panel

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

A boy presenting with sagittal and metopic synostosis was found to harbour a complex paracentric inversion involving 2q14.3 and 2q3. An intronic break of the PTH2R gene was
detected by whole genome sequencing and fluorescence in situ hybridisation (PMID:26044810).
Sources: Literature
Created: 23 Jul 2023, 5:41 p.m.

Mode of inheritance
Other

Phenotypes
craniosynostosis, MONDO:0015469

Publications

Created: 23 Jul 2023, 5:41 p.m.

Panel version: 4.153

Details

Mode of Inheritance
Other
Sources
  • Literature
Phenotypes
  • craniosynostosis, MONDO:0015469
OMIM
601469
Clinvar variants
Variants in PTH2R
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Jul 2023, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: PTH2R was added gene: PTH2R was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: PTH2R was set to Other Publications for gene: PTH2R were set to 26044810; 36980886 Phenotypes for gene: PTH2R were set to craniosynostosis, MONDO:0015469 Review for gene: PTH2R was set to RED