Genomics England
GMS Panels
Panels
Genes and Entities

DROSHA

drosha ribonuclease III
OMIM: 608828
PanelMode of inheritanceDetails
2 panels
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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