SERPINH1

serpin family H member 1
OMIM: 600943, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green SERPINH1 in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 0.223	review	Unknown	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Expert Review Green Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
Green SERPINH1 in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteogenesis imperfecta, type X, MIM# 613848 Osteogenesis imperfecta type 10, MONDO:0013459
Green SERPINH1 in Osteogenesis Imperfecta and Osteoporosis Level 2: Skeletal disorders Version 0.114	review	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services
Green SERPINH1 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Expert Radboud University Medical Center, Nijmegen Expert Review Green NHS GMS Emory Genetics Laboratory Victorian Clinical Genetics Services Phenotypes Osteogenesis imperfecta, type X, 613848 OI3 Osteogenesis Imperfecta and Decreased Bone Density {Preterm premature rupture of the membranes, susceptibility to}, 610504 skeletal dysplasias Osteogenesis Imperfecta, Recessive
Green SERPINH1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Orofaciodigital syndrome VI, 277170 (3)
Green SERPINH1 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Osteogenesis imperfecta type 10, MONDO:0013459 Osteogenesis imperfecta, type X, OMIM:613848
Green SERPINH1 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Orofaciodigital syndrome VI, 277170 (3)
Green SERPINH1 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Osteogenesis imperfecta, type X, MIM# 613848 Tags treatable skeletal
Green SERPINH1 in Transplant Co-Morbidity Superpanel Level 2: Screening Version 0.18	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteogenesis imperfecta
Green SERPINH1 in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Orofaciodigital syndrome VI, 277170 (3)