Genes in panel
Regions in panel
Prev Next

Mendeliome

Gene: DROSHA

Amber List (moderate evidence)

DROSHA (drosha ribonuclease III)
EnsemblGeneIds (GRCh38): ENSG00000113360
EnsemblGeneIds (GRCh37): ENSG00000113360
OMIM: 608828, Gene2Phenotype
DROSHA is in 4 panels

1 review

Lucy Spencer (Victorian Clinical Genetics Services)

I don't know

2 individuals with profound intellectual disability, epilepsy, white matter atrophy, microcephaly, and dysmorphic features, who carry damaging de novo heterozygous variants in DROSHA. Both variants are missense, absent from gnomad. Both individuals noted to have Rett-like features.

Functional studies in patient fibroblasts showed one of the missense altered the expression of mature miRNA. Fruit fly models with homozygous LOF variants die during larval stages. introduction of the missense seen in the patients was able to partially rescue this phenotype suggesting LOF is not the mechanism.
Sources: Literature
Created: 5 May 2022, 1:20 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Neurodevelopmental disorder (MONDO#0700092), DROSHA-related

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Neurodevelopmental disorder (MONDO#0700092), DROSHA-related
Tags
non-coding gene
OMIM
608828
Clinvar variants
Variants in DROSHA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Mar 2025, Gel status: 2

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag non-coding gene tag was added to gene: DROSHA.

5 May 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: drosha has been classified as Amber List (Moderate Evidence).

5 May 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: drosha has been classified as Amber List (Moderate Evidence).

5 May 2022, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Lucy Spencer (Victorian Clinical Genetics Services)

gene: DROSHA was added gene: DROSHA was added to Mendeliome. Sources: Literature Mode of inheritance for gene: DROSHA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DROSHA were set to 35405010 Phenotypes for gene: DROSHA were set to Neurodevelopmental disorder (MONDO#0700092), DROSHA-related Review for gene: DROSHA was set to AMBER