PLA2G16:Ensemblv90

phospholipase A2 group XVI
OMIM: 613867, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green PLA2G16 in Lipodystrophy_Lipoatrophy


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.28

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Lipodystrophy, familial partial, type 9, MIM# 620683
Tags
  • new gene name

Green PLA2G16 in Mendeliome


Version 1.3802

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Lipodystrophy, familial partial, type 9, MIM# 620683
Tags
  • new gene name

Green PLA2G16 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.508

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Lipodystrophy, familial partial, type 9, MIM# 620683
Tags
  • new gene name

Green PLA2G16 in Hereditary Neuropathy - complex


Level 2: Neurology and neurodevelopmental disorders
Version 1.45

Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Lipodystrophy, familial partial, type 9, MIM# 620683
    Tags
    • new gene name

    Green PLA2G16 in Lipodystrophy_Lipoatrophy


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.0

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • Lipodystrophy, familial partial, type 9, MIM# 620683
    Tags
    • new gene name

    Green PLA2G16 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • Lipodystrophy, familial partial, type 9, MIM# 620683
    Tags
    • new gene name

    Green PLA2G16 in Hereditary Neuropathy - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • Lipodystrophy, familial partial, type 9, MIM# 620683
    Tags
    • new gene name