AP2S1

adaptor related protein complex 2 sigma 1 subunit
OMIM: 602242, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green AP2S1 in Hypercalcaemia


Level 2: Endocrine disorders
Version 1.2

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypocalciuric hypercalcaemia, type III, MIM# 600740
  • MONDO:0010926

Green AP2S1 in Mendeliome


Version 1.3512

3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypocalciuric hypercalcaemia, type III, MIM# 600740
  • MONDO:0010926
  • Neurodevelopmental disorder, MONDO:0700092, AP2S1-related

Green AP2S1 in Calcium and Phosphate disorders


Level 2: Renal and urinary tract disorders; Endocrine disorders
Version 1.29

3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_CalcPhos v38.1.0
Phenotypes
  • Hypocalciuric hypercalcaemia, type III, MIM# 600740
  • MONDO:0010926

Green AP2S1 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.267

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder, MONDO:0700092, AP2S1-related

    Green AP2S1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder, MONDO:0700092, AP2S1-related

    Green AP2S1 in Renal Tubulopathies and related disorders


    Level 2: Renal and urinary tract disorders
    Version 1.22

    Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • 3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • KidGen_CalcPhos v38.1.0
    • KidGen_CalcPhos v38.1.0
    Phenotypes
    • Hypocalciuric hypercalcaemia, type III, MIM# 600740
    • MONDO:0010926