SP7

Sp7 transcription factor
OMIM: 606633, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Red SP7 in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 0.223	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Phenotypes Osteogenesis imperfecta, type XII, MIM# 613849
Green SP7 in Mendeliome Version 1.1902	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteogenesis imperfecta type 12, MONDO:0013460 Osteogenesis imperfecta, type XII, OMIM:613849
Green SP7 in Osteogenesis Imperfecta and Osteoporosis Level 2: Skeletal disorders Version 0.114	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteogenesis imperfecta type 12, MONDO:0013460 Osteogenesis imperfecta, type XII, OMIM:613849
Red SP7 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Osteogenesis imperfecta, type XII OMIM # 613849
Green SP7 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 XII 613849
Red SP7 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category C gene Phenotypes Osteogenesis imperfecta, type XII
Red SP7 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Osteogenesis imperfecta type 12, MONDO:0013460 Osteogenesis imperfecta, type XII, OMIM:613849
Amber SP7 in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BabySeq Category C gene Phenotypes Osteogenesis imperfecta, type XII, MIM# 613849 Tags skeletal
Green SP7 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 type 12, MONDO:0013460 Osteogenesis imperfecta, type XII, OMIM:613849