PanelApp
  1. Genes and Genomic Entities
  2. NUP107

NUP107

nucleoporin 107
OMIM: 607617, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green NUP107 in Mendeliome


Version 1.3512

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Galloway-Mowat syndrome 7, MIM# 618348
Tags
  • founder

Green NUP107 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.357

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Galloway-Mowat syndrome 7, MIM# 618348
Tags
  • founder

Green NUP107 in Proteinuria


Level 2: Renal and urinary tract disorders
Version 0.231

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Glomerular Disease_SuperPanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Galloway-Mowat syndrome 7, MIM# 618348
    Tags
    • founder

    Green NUP107 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Nephrotic syndrome, type 11, 616730 (3), Autosomal recessive

    Green NUP107 in Primary Ovarian Insufficiency_Premature Ovarian Failure

    Level 3: Gonadal and sex development disorders
    Level 2: Endocrine disorders
    Version 0.388

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health QLD
    • Royal Melbourne Hospital
    • Victorian Clinical Genetics Services
    Phenotypes
    • Ovarian dysgenesis 6 MIM#618078
    • primary amenorrhea
    • hypogonadotrophic hypogonadism

    Green NUP107 in Fetal anomalies


    Version 1.465

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Galloway-Mowat syndrome 7, MIM# 618348

    Green NUP107 in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Galloway-Mowat syndrome 7, MIM#618348
    • Nephrotic syndrome, type 11, MIM#616730

    Green NUP107 in Infertility and Recurrent Pregnancy Loss


    Version 1.50

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Ovarian dysgenesis 6, MIM# 618078