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Possible mitochondrial disorder - nuclear genes

Gene: RMND1

Green List (high evidence)

RMND1 (required for meiotic nuclear division 1 homolog)
EnsemblGeneIds (GRCh38): ENSG00000155906
EnsemblGeneIds (GRCh37): ENSG00000155906
OMIM: 614917, Gene2Phenotype
RMND1 is in 10 panels

4 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.
Created: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 11, 614922

Carl Fratter (Oxford University Hospitals NHS Trust)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Confirmed on G2P and OMIM.
Created: 12 Feb 2016, 11:40 a.m.
Comment on list classification: Both reviewers agree this gene should be promoted from red to green, and it is a probable DD gene for encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect.
Created: 12 Feb 2016, 11:40 a.m.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Details

History Filter Activity

4 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: RMND1 was added gene: RMND1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: RMND1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RMND1 were set to Combined oxidative phosphorylation deficiency 11, 614922