ZMPSTE24

zinc metallopeptidase STE24
OMIM: 606480, Gene2Phenotype

13 panels

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

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.18

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 1.69

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 1.125

review Not set
Sources
  • Eligibility statement prior genetic testing
Green ZMPSTE24 in Severe insulin resistance and lipodystrophy syndromes


Level 2: Endocrinology
Version 5.4
Latest signed off version: v5.2 (12 Aug 2026)

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


Level 2: Endocrinology
Version 3.27
Latest signed off version: v3.26 (12 Aug 2026)

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


Level 2: Neurology
Version 10.23
Latest signed off version: v10.16 (12 Aug 2026)

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


Level 2: Musculoskeletal
Version 10.5
Latest signed off version: v10.0 (12 Aug 2026)

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
    Green ZMPSTE24 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 8.5
    Latest signed off version: v8.0 (12 Aug 2026)

    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 2: Musculoskeletal
    Version 6.8
    Latest signed off version: v6.7 (12 Aug 2026)

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


    Version 8.1
    Latest signed off version: v8.0 (12 Aug 2026)

    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 2: Musculoskeletal
    Version 7.10
    Latest signed off version: v7.8 (12 Aug 2026)

    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


    Level 2: Developmental disorders
    Version 11.26
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • 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 2: Renal
    Version 6.18
    Latest signed off version: v6.13 (12 Aug 2026)

    Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease
  • review Not set
    Sources
    • NHS GMS
    • Expert Review Red
    • Eligibility statement prior genetic testing
    Phenotypes
    • Mandibuloacral dysplasia with type B lipodystrophy #608612