1. Genes and Genomic Entities
  2. ZMPSTE24

ZMPSTE24

zinc metallopeptidase STE24
OMIM: 606480, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels
Green ZMPSTE24 in Insulin resistance (including lipodystrophy)

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.17

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mandibuloacral dysplasia with type B lipodystrophy, 608612
Green ZMPSTE24 in Familial diabetes

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.67

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mandibuloacral dysplasia with type B lipodystrophy, 608612
Red ZMPSTE24 in Unexplained kidney failure in young people

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.119

Component of the following Super Panels:

  • Renal superpanel - broad

    		•  review Not set
    Sources
    • Eligibility statement prior genetic testing
    Green ZMPSTE24 in Lipodystrophy - childhood onset


    Version 4.50
    Latest signed off version: v4.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Mandibuloacral dysplasia with type B lipodystrophy, 608612
    Green ZMPSTE24 in Monogenic diabetes


    Version 2.58
    Latest signed off version: v2.2 (25 Feb 2020)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Mandibuloacral dysplasia with type B lipodystrophy, OMIM:608612
    Green ZMPSTE24 in Arthrogryposis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.31
    Latest signed off version: v5.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Restrictive dermopathy, lethal 275210
    Green ZMPSTE24 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 4.65
    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
    • Emory Genetics Laboratory
    Phenotypes
    • Mandibuloacral dysplasia with type B lipodystrophy 608612
    • Restrictive dermopathy, lethal 275210
    Red ZMPSTE24 in Unexplained young onset end-stage renal disease


    Version 3.42
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Renal superpanel - broad

    		•  review Unknown
    Sources
    • Expert Review Red
    Green ZMPSTE24 in Fetal anomalies


    Version 3.169
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY
    • LETHAL RESTRICTIVE DERMOPATHY, ZMPSTE24-RELATED
    Red ZMPSTE24 in Osteogenesis imperfecta

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 4.5
    Latest signed off version: v4.0 (22 Mar 2023)

    		review Not set
    Sources
    • Emory Genetics Laboratory
    Phenotypes
    • Osteogenesis Imperfecta and Decreased Bone Density
    • skeletal dysplasias
    Green ZMPSTE24 in DDG2P


    Version 3.90
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY 608612
    • LETHAL RESTRICTIVE DERMOPATHY, ZMPSTE24-RELATED 319186
    Amber ZMPSTE24 in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 4.111
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    Phenotypes
    • RESTRICTIVE DERMOPATHY, LETHAL
    Red ZMPSTE24 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.550
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Mandibuloacral dysplasia with type B lipodystrophy, 608612
    • Restrictive dermopathy, lethal, 275210
    Red ZMPSTE24 in Proteinuric renal disease

    Level 3: Syndromes with prominent renal abnormalities
    Level 2: Renal and urinary tract disorders
    Version 4.12
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow

    		•  review Not set
    Sources
    • NHS GMS
    • Expert Review Red
    • Eligibility statement prior genetic testing
    Phenotypes
    • Mandibuloacral dysplasia with type B lipodystrophy #608612
    Green ZMPSTE24 in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mandibuloacral dysplasia with type B lipodystrophy, 608612
    • Restrictive dermopathy, lethal, 275210