DROSHA

drosha ribonuclease III
OMIM: 608828, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Green DROSHA in Severe microcephaly Level 3: DNA repair disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 4.82 Latest signed off version: v4.0 (22 Mar 2023)	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 3: Skeletal dysplasias Level 2: Skeletal disorders Version 4.63 Latest signed off version: v4.0 (22 Mar 2023) 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 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 4.196 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: 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 - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.544 Latest signed off version: v5.0 (22 Mar 2023) 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