MBTPS2

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

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green MBTPS2 in Familial cicatricial alopecia Level 3: Skin adnexa disorders Level 2: Dermatological disorders Version 1.5	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Other Phenotypes Keratosis follicularis spinulosa decalvans, X-linked, 208800 (includes progressive cicatricial alopecia of the scalp) KFSDX scarring alopecia
Red MBTPS2 in Palmoplantar keratoderma and erythrokeratodermas Level 3: Keratodermas Level 2: Dermatological disorders Version 1.31	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Literature Phenotypes IFAP syndrome. 308205, along with pachyonychia, palmoplantar and periorificial keratoderma ?Olmsted syndrome, X-linked, 300918 X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques (Olmsted syndrome)
Red MBTPS2 in Familial Hirschsprung Disease Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.10	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Other Phenotypes IFAP syndrome with or without BRESHECK syndrome, 308205
Red MBTPS2 in Ichthyosis and erythrokeratoderma Version 3.28 Latest signed off version: v3.2 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Phenotypes X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques (Olmsted syndrome) ?Olmsted syndrome, X-linked, 300918 IFAP syndrome. 308205, along with pachyonychia, palmoplantar and periorificial keratoderma
Red MBTPS2 in Limb disorders Version 5.4 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes IFAP syndrome with or without BRESHECK syndrome 308205 Polydactyly
Green MBTPS2 in Ectodermal dysplasia Version 3.29 Latest signed off version: v3.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes scarring alopecia KFSDX Keratosis follicularis spinulosa decalvans, X-linked, 208800 (includes progressive cicatricial alopecia of the scalp)
Green MBTPS2 in Palmoplantar keratodermas Version 3.25 Latest signed off version: v3.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources London North GLH NHS GMS Expert Review Green Phenotypes Olmstedt syndrome IFAP syndrome Keratosis follicularis spinulosa decalvans
Amber MBTPS2 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 5.3 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Expert list Phenotypes Osteogenesis imperfecta, type XIX, OMIM:301014 osteogenesis imperfecta, type 19, MONDO:0049223
Green MBTPS2 in Fetal anomalies Version 4.1 Latest signed off version: v4.0 (1 May 2024)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources PAGE Additional Gene List Expert Review Green Phenotypes Keratosis follicularis spinulosa decalvans, X-linked 308800 IFAP syndrome with or without BRESHECK syndrome 308205
Amber MBTPS2 in Osteogenesis imperfecta Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 4.5 Latest signed off version: v4.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Expert list Phenotypes Osteogenesis imperfecta, type XIX, OMIM:301014 osteogenesis imperfecta, type 19, MONDO:0049223
Green MBTPS2 in Clefting Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 5.3 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	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 Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 6.13 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Victorian Clinical Genetics Services Expert Review Green Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes IFAP syndrome with or without BRESHECK syndrome 308205 IFAP syndrome with or without BRESHECK syndrome,308205 Ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cleft palate/cryptorchidism, and kidney dysplasia/hypoplasia
Green MBTPS2 in Severe Paediatric Disorders Version 1.184	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Keratosis follicularis spinulosa decalvans, X-linked, 308800 Osteogenesis imperfecta, type XIX, 301014 ?Olmsted syndrome, X-linked, 300918 IFAP syndrome with or without BRESHECK syndrome, 308205