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Mitochondrial disease

Gene: RMRP

Green List (high evidence)

RMRP (RNA component of mitochondrial RNA processing endoribonuclease)
EnsemblGeneIds (GRCh38): ENSG00000269900
EnsemblGeneIds (GRCh37): ENSG00000269900
OMIM: 157660, Gene2Phenotype
RMRP is in 16 panels

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History Filter Activity

14 Mar 2025, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

20 May 2024, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: RMRP was added gene: RMRP was added to Mitochondrial disease. Sources: Expert Review Green Mode of inheritance for gene: RMRP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RMRP were set to 29884839; 38337186 Phenotypes for gene: RMRP were set to Disorders of ribosomal biogenesis; cartilage-hair hypoplasia MONDO:0009595