NUDCD2

NudC domain containing 2
ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Amber NUDCD2 in Cerebellar and Pontocerebellar Hypoplasia


Level 2: Neurology and neurodevelopmental disorders
Version 1.100

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • Literature
Phenotypes
  • Multiple congenital anomalies (MONDO:0019042), NUDCD2-related

Amber NUDCD2 in Cholestasis


Level 2: Gastroenterological disorders
Version 1.10

Component of the following Super Panels:

  • Liverome Superpanel
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    • Literature
    Phenotypes
    • Multiple congenital anomalies (MONDO:0019042), NUDCD2-related

    Amber NUDCD2 in Mendeliome


    Version 1.4852

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Multiple congenital anomalies (MONDO:0019042), NUDCD2-related

    Amber NUDCD2 in Congenital hypothyroidism

    Level 3: Thyroid disorders
    Level 2: Endocrine disorders
    Version 0.121

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    • Literature
    Phenotypes
    • Multiple congenital anomalies (MONDO:0019042), NUDCD2-related

    Amber NUDCD2 in Fetal anomalies


    Version 1.576

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Multiple congenital anomalies (MONDO:0019042), NUDCD2-related