PTH1R

parathyroid hormone 1 receptor
OMIM: 168468, ClinGen, DECIPHER

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Green PTH1R in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 0.225	1 review	Unknown	Sources Expert list Victorian Clinical Genetics Services Expert Review Green Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
Green PTH1R in Hydrops fetalis Level 2: Dysmorphic and congenital abnormality syndromes Version 0.324	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes CHONDRODYSPLASIA, BLOMSTRAND TYPE BOCD
Green PTH1R in Hypercalcaemia Level 2: Endocrine disorders Version 1.2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Metaphyseal chondrodysplasia, Murk Jansen type, MIM# 156400 MONDO:0007982
Green PTH1R in Macrocephaly_Megalencephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.149	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green PTH1R in Mendeliome Version 1.2302	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Failure of tooth eruption, primary MIM#125350 Eiken syndrome MIM#600002 Metaphyseal chondrodysplasia, Murk Jansen type MIM#156400 Chondrodysplasia, Blomstrand type MIM#215045
Green PTH1R in Osteopetrosis Level 2: Skeletal disorders Version 0.34	1 review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green PTH1R in Calcium and Phosphate disorders Level 2: Renal and urinary tract disorders; Endocrine disorders Version 1.24	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green KidGen_CalcPhos v38.1.0 Victorian Clinical Genetics Services Phenotypes Metaphyseal chondrodysplasia, Murk Jansen type, MIM# 156400 MONDO:0007982
Green PTH1R in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.302	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Failure of tooth eruption, primary 125350 Eiken syndrome 600002 Metaphyseal chondrodysplasia, Murk Jansen type 156400 Chondrodysplasia, Blomstrand type 215045
Green PTH1R in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Chondrodysplasia, Blomstrand type, 215045 (3)
Green PTH1R in Metaphyseal dysplasias Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.5	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Failure of tooth eruption, primary 125350 Eiken syndrome 600002 Chondrodysplasia, Blomstrand type 215045 Metaphyseal chondrodysplasia, Murk Jansen type 156400
Green PTH1R in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Metaphyseal chondrodysplasia
Green PTH1R in Fetal anomalies Version 1.313	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Expert list Phenotypes Chondrodysplasia, Blomstrand type, MIM# 215045
Green PTH1R in Prepair 1000+ Level 2: Screening Version 1.1566	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Chondrodysplasia, Blomstrand type (MIM#215045) Eiken syndrome (MIM#600002)
Red PTH1R in BabyScreen+ newborn screening Level 2: Screening Version 1.116	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Failure of tooth eruption, primary MIM#125350 Eiken syndrome MIM#600002 Metaphyseal chondrodysplasia, Murk Jansen type MIM#156400 Chondrodysplasia, Blomstrand type MIM#215045
Green PTH1R in Renal Tubulopathies and related disorders Level 2: Renal and urinary tract disorders Version 1.17 Component of the following Super Panels: Kidneyome_SuperPanel	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CalcPhos v38.1.0 Expert Review Green Expert Review Green KidGen_CalcPhos v38.1.0 Victorian Clinical Genetics Services Phenotypes Metaphyseal chondrodysplasia, Murk Jansen type MIM#156400 Failure of tooth eruption, primary MIM#125350 Eiken syndrome MIM#600002 Chondrodysplasia, Blomstrand type MIM#215045