1. Genes and Genomic Entities
  2. ZMPSTE24

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 1.68

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 1.124

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


Level 2: Endocrinology
Version 4.67
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


Level 2: Endocrinology
Version 3.10
Latest signed off version: v3.0 (30 Apr 2025)

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 9.31
Latest signed off version: v9.0 (30 Apr 2025)

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 8.38
Latest signed off version: v8.0 (30 Apr 2025)

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 6.157
    Latest signed off version: v6.0 (30 Apr 2025)

    		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 5.5
    Latest signed off version: v5.0 (30 Apr 2025)

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


    Version 6.426
    Latest signed off version: v6.0 (30 Apr 2025)

    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 6.22
    Latest signed off version: v6.5 (30 Apr 2025)

    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 9.304
    Latest signed off version: v9.0 (30 Apr 2025)

    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 2: Renal
    Version 5.9
    Latest signed off version: v5.0 (30 Apr 2025)

    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