OSTM1

osteopetrosis associated transmembrane protein 1
OMIM: 607649, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green OSTM1 in Hydrocephalus_Ventriculomegaly Level 2: Neurology and neurodevelopmental disorders Version 0.127	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green OSTM1 in Macrocephaly_Megalencephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.149	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green OSTM1 in Mendeliome Version 1.2374	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteopetrosis, autosomal recessive 5 (MIM#259720)
Green OSTM1 in Osteopetrosis Level 2: Skeletal disorders Version 0.34	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Osteopetrosis, autosomal recessive 5 MIM#259720
Green OSTM1 in Defects of intrinsic and innate immunity Level 2: Immunological disorders Version 1.20 Component of the following Super Panels: Immunological disorders_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Osteopetrosis, autosomal recessive 5 MIM#259720
Green OSTM1 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.305	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Osteopetrosis, autosomal recessive 5 259720
Green OSTM1 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 Osteopetrosis, autosomal recessive 5, 259720 (3)
Green OSTM1 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Osteopetrosis
Green OSTM1 in Fetal anomalies Version 1.314	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Osteopetrosis, autosomal recessive 5 (MIM#259720)
Green OSTM1 in Prepair 1000+ Level 2: Screening Version 1.1586	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Osteopetrosis, autosomal recessive 5, 259720 (3)
Red OSTM1 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Osteopetrosis, autosomal recessive 5, MIM#259720
Green OSTM1 in Prepair 500+ Level 2: Screening Version 1.5	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Osteopetrosis, autosomal recessive 5, 259720 (3)