PAM16

presequence translocase associated motor 16
OMIM: 614336, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Red PAM16 in Currarino triad


Version 1.2

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
Phenotypes
  • Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type
  • Partial sacral agenesis
Amber PAM16 in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.34
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    • Expert list
    Phenotypes
    • Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type 613320
    Amber PAM16 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Amber
    Phenotypes
    • Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, OMIM:613320
    Amber PAM16 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    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 Amber
    • Expert list
    Phenotypes
    • Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, MIM#613320
    Tags
    • watchlist
    • founder-effect
    Red PAM16 in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 9.41
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • review Not set
    Sources
    • Expert list
    Phenotypes
    • Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type 613320