DROSHA

drosha ribonuclease III
OMIM: 608828, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green DROSHA in Severe microcephaly


Level 2: Neurology
Version 8.34
Latest signed off version: v8.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Global developmental delay
  • Intellectual disability
  • Seizures
  • Cerebral white matter atrophy
  • Abnormality of the corpus callosum
  • Abnormality of movement
  • Stereotypic behavior
  • Abnormality of head or neck
  • Short foot
Tags
  • locus-type-rna-micro
  • gene-checked
Amber DROSHA in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.38
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Literature
    • Expert Review Amber
    Phenotypes
    • Global developmental delay
    • Intellectual disability
    • Seizures
    • Cerebral white matter atrophy
    • Abnormality of the corpus callosum
    • Abnormality of movement
    • Stereotypic behavior
    • Abnormality of head or neck
    • Short foot
    Tags
    • locus-type-rna-micro
    • gene-checked
    Green DROSHA in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.147
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Global developmental delay
    • Intellectual disability
    • Seizures
    • Cerebral white matter atrophy
    • Abnormality of the corpus callosum
    • Abnormality of movement
    • Stereotypic behavior
    • Abnormality of head or neck
    • Short foot
    Tags
    • locus-type-rna-micro
    • gene-checked
    Amber DROSHA in Intellectual disability


    Level 2: Developmental disorders
    Version 9.304
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Amber
    • Literature
    Phenotypes
    • Global developmental delay
    • Intellectual disability
    • Seizures
    • Cerebral white matter atrophy
    • Abnormality of the corpus callosum
    • Abnormality of movement
    • Stereotypic behavior
    • Abnormality of head or neck
    • Short foot
    Tags
    • locus-type-rna-micro
    • gene-checked