DROSHA

drosha ribonuclease III
OMIM: 608828, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Amber DROSHA in Mendeliome


Version 1.4851

2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092
  • hereditary hemorrhagic telangiectasia MONDO:0019180
  • idiopathic spontaneous coronary artery dissection MONDO:0007385
Tags
  • non-coding gene

Amber DROSHA in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.434

1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder (MONDO#0700092), DROSHA-related
Tags
  • non-coding gene

Amber DROSHA in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.414

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Neurodevelopmental disorder (MONDO#0700092), DROSHA-related
    Tags
    • non-coding gene

    Amber DROSHA in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.780

    1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Neurodevelopmental disorder (MONDO#0700092), DROSHA-related
    Tags
    • non-coding gene

    Amber DROSHA in Hereditary Haemorrhagic Telangiectasia


    Level 2: Vascular disorders
    Version 1.6

    2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Literature
    • Expert Review Amber
    • Literature
    Phenotypes
    • Neurodevelopmental disorder, MONDO:0700092
    • hereditary hemorrhagic telangiectasia MONDO:0019180
    • idiopathic spontaneous coronary artery dissection MONDO:0007385
    Tags
    • non-coding gene

    Red DROSHA in Spontaneous coronary artery dissection


    Level 2: Cardiovascular disorders
    Version 0.58

    2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Literature
    • Literature
    Phenotypes
    • Neurodevelopmental disorder, MONDO:0700092
    • hereditary hemorrhagic telangiectasia MONDO:0019180
    • idiopathic spontaneous coronary artery dissection MONDO:0007385
    Tags
    • non-coding gene