MBTPS2

membrane bound transcription factor peptidase, site 2
OMIM: 300294, Gene2Phenotype

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Green MBTPS2 in Ichthyosis Level 2: Dermatological disorders Version 1.11	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes IFAP syndrome with or without BRESHECK syndrome MIM#308205 follicular ichthyosis atrichia of the scalp photophobia
Green MBTPS2 in Mendeliome Version 1.1902	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteogenesis imperfecta, type XIX, (MIM301014) IFAP syndrome with or without BRESHECK syndrome (MIM#308205) Keratosis follicularis spinulosa decalvans, X-linked (MIM#308800) Olmsted syndrome, X-linked (MIM#300918)
Amber MBTPS2 in Osteogenesis Imperfecta and Osteoporosis Level 2: Skeletal disorders Version 0.114	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Expert list Phenotypes Osteogenesis imperfecta, type XIX, MIM# 301014
Green MBTPS2 in Palmoplantar Keratoderma and Erythrokeratoderma Level 2: Dermatological disorders Version 0.132	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Olmsted syndrome, X-linked (MIM#300918) Keratosis follicularis spinulosa decalvans, X-linked (MIM#308800) IFAP syndrome with or without BRESHECK syndrome (MIM#308205)
Green MBTPS2 in Polydactyly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.276 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Victorian Clinical Genetics Services Expert Review Green
Green MBTPS2 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.522	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green MBTPS2 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes IFAP syndrome 1, with or without BRESHECK syndrome MONDO:0100213
Green MBTPS2 in Ectodermal Dysplasia Level 2: Dermatological disorders Version 0.86	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green NHS GMS Phenotypes IFAP syndrome with or without BRESHECK syndrome MIM#308205
Green MBTPS2 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes IFAP syndrome with or without BRESHECK syndrome, 308205 (3)
Green MBTPS2 in Hair disorders Level 2: Dermatological disorders Version 0.71	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Other Phenotypes IFAP syndrome with or without BRESHECK syndrome MONDO:0100213
Green MBTPS2 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Ichthyosis follicularis, alopecia & photophobia
Green MBTPS2 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.252	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME
Green MBTPS2 in Fetal anomalies Version 1.255	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Phenotypes IFAP syndrome with or without BRESHECK syndrome MIM#308205 Osteogenesis imperfecta, type XIX, MIM#301014
Green MBTPS2 in Prepair 1000+ Level 2: Screening Version 1.9	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes IFAP syndrome with or without BRESHECK syndrome, 308205 (3)
Red MBTPS2 in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red BabySeq Category A gene Phenotypes IFAP syndrome with or without BRESHECK syndrome MIM#308205