PanelApp (test)
  1. Genes and Genomic Entities
  2. PAM16:Ensemblv90

PAM16:Ensemblv90

presequence translocase associated motor 16
OMIM: 614336, ClinGen, DECIPHER

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green PAM16 in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 0.244

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Literature
Phenotypes
  • Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, OMIM # 613320

Green PAM16 in Mendeliome


Version 1.3802

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, OMIM # 613320

Green PAM16 in Mitochondrial disease


Level 2: Metabolic disorders
Version 0.1299

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • autosomal recessive spondylometaphyseal dysplasia, Megarbane type MONDO:0013223
    • Disorders of mitochondrial protein import

    Green PAM16 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.508

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, MIM#613320

    Green PAM16 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.365

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • NHS GMS
    Phenotypes
    • Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type 613320

    Green PAM16 in Fetal anomalies


    Version 1.482

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, OMIM # 613320

    Green PAM16 in Skeletal Dysplasia_Fetal


    Level 2: Skeletal disorders
    Version 1.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert list
    • Expert Review Green
    Phenotypes
    • Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, OMIM # 613320

    Green PAM16 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 1.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert list
    • Expert Review Green
    Phenotypes
    • Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type 613320