OSTM1

osteopetrosis associated transmembrane protein 1
OMIM: 607649, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green OSTM1 in COVID-19 research Level 2: Viral research Version 1.142	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green IUIS Classification December 2019 IUIS Classification February 2018 IUIS Classification December 2019 IUIS Classification February 2018 Phenotypes Defects in intrinsic and innate immunity Defects in Intrinsic and Innate Immunity Osteopetrosis with hypocalcemia, neurologic features
Green OSTM1 in Hydrocephalus Version 4.4 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Osteopetrosis, autosomal recessive 5, OMIM:259720
Red OSTM1 in Primary immunodeficiency or monogenic inflammatory bowel disease Version 4.202 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources IUIS Classification December 2019 Expert Review Red IUIS Classification February 2018 Phenotypes Defects in Intrinsic and Innate Immunity Osteopetrosis with hypocalcemia, neurologic features Defects in intrinsic and innate immunity
Green OSTM1 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 4.63 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Osteopetrosis, autosomal recessive 5 259720
Green OSTM1 in Fetal anomalies Version 3.164 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE Additional Gene List Expert Review Green Phenotypes Osteopetrosis 259720
Red OSTM1 in Rare syndromic craniosynostosis or isolated multisuture synostosis Level 3: Craniosynostosis syndromes Level 2: Skeletal disorders Version 4.180 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Phenotypes Osteopetrosis, autosomal recessive 5, OMIM:259720 craniosynostosis, MONDO:0015469
Green OSTM1 in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Osteopetrosis, autosomal recessive 5, 259720
Green OSTM1 in Osteopetrosis Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.34 Latest signed off version: v1.1 (21 Sep 2020)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Osteopetrosis, autosomal recessive 5 OMIM:259720