MT-RNR1

mitochondrially encoded 12S RNA
OMIM: 561000, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green MT-RNR1 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	MITOCHONDRIAL	Sources Expert Review Green Phenotypes DEAFNESS, AMINOGLYCOSIDE-INDUCED DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL CARDIOMYOPATHY, RESTRICTIVE AUDITORY NEUROPATHY Tags locus-type-rna-ribosomal gene-checked
Green MT-RNR1 in Likely inborn error of metabolism - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	MITOCHONDRIAL	Sources Expert Review Green Phenotypes DEAFNESS, AMINOGLYCOSIDE-INDUCED DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL AUDITORY NEUROPATHY CARDIOMYOPATHY, RESTRICTIVE Tags gene-checked
Green MT-RNR1 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.477	review	MITOCHONDRIAL	Sources Expert Review Green NHS GMS London North GLH Phenotypes Parkinsonism, deafness, and sensory-motor axonal neuropathy Tags gene-checked
Green MT-RNR1 in Monogenic hearing loss Level 3: Non-syndromic hearing loss Level 2: Hearing and ear disorders Version 4.38 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	MITOCHONDRIAL	Sources Expert Review Green Emory Genetics Laboratory UKGTN Phenotypes hearing loss Mitochondrial-Related Deafness DEAFNESS, AMINOGLYCOSIDE-INDUCED DEAFNESS AUDITORY NEUROPATHY, INCLUDED DEAFNESS DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL CARDIOMYOPATHY, RESTRICTIVE, INCLUDED Tags locus-type-rna-ribosomal gene-checked
Green MT-RNR1 in Mitochondrial disorders Level 3: Mitochondrial Level 2: Metabolic disorders Version 4.168 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy	review	MITOCHONDRIAL	Sources Expert Review Green UKGTN Phenotypes DEAFNESS, AMINOGLYCOSIDE-INDUCED DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL CARDIOMYOPATHY, RESTRICTIVE AUDITORY NEUROPATHY Tags locus-type-rna-ribosomal gene-checked
Amber MT-RNR1 in Hereditary neuropathy or pain disorder Version 3.94 Latest signed off version: v3.24 (15 May 2023)	review	MITOCHONDRIAL	Sources Expert Review Amber London North GLH NHS GMS NHS GMS London North GLH Phenotypes Parkinsonism, deafness, and sensory-motor axonal neuropathy
No list MT-RNR1 in Childhood onset dystonia, chorea or related movement disorder Version 3.75 Latest signed off version: v3.0 (22 Mar 2023)	review	MITOCHONDRIAL	Sources Expert Review Removed London North GLH Tags curated_removed
Green MT-RNR1 in Severe Paediatric Disorders Version 1.184	review	MITOCHONDRIAL	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL CARDIOMYOPATHY, RESTRICTIVE DEAFNESS, AMINOGLYCOSIDE-INDUCED AUDITORY NEUROPATHY