MBTPS2

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

13 panels

Panel Reviews Mode of inheritance Details
13 panels

Green MBTPS2 in Familial cicatricial alopecia

Level 3: Skin adnexa disorders
Level 2: Dermatological disorders
Version 1.3

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 1.20

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 1.9

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 1.66
Latest signed off version: v1.3 (15 Oct 2020)

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 2.57
Latest signed off version: v2.2 (13 Feb 2020)

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 1.26
    Latest signed off version: v1.10 (15 Oct 2020)

    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 1.9
    Latest signed off version: v1.3 (15 Oct 2020)

    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 2.126
    Latest signed off version: v2.2 (13 Feb 2020)

    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
    Tags
    • Q3_21_rating
    • Q3_21_expert_review

    Green MBTPS2 in Fetal anomalies


    Version 1.717
    Latest signed off version: v1.92 (21 Aug 2020)

    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 2.37
    Latest signed off version: v2.2 (13 Feb 2020)

    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
    Tags
    • Q3_21_rating
    • Q3_21_expert_review
    • Q3_21_NHS_review

    Green MBTPS2 in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.49
    Latest signed off version: v2.2 (4 Mar 2020)

    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 3.1306
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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 1.84

    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