Possible mitochondrial disorder - nuclear genes
Gene: RMND1
RMND1 (required for meiotic nuclear division 1 homolog)
EnsemblGeneIds (GRCh38): ENSG00000155906
EnsemblGeneIds (GRCh37): ENSG00000155906
OMIM: 614917, Gene2Phenotype
RMND1 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000155906
EnsemblGeneIds (GRCh37): ENSG00000155906
OMIM: 614917, Gene2Phenotype
RMND1 is in 11 panels
4 reviews
Ivone Leong (Genomics England Curator)
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)
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)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Combined oxidative phosphorylation deficiency 11, 614922
- OMIM
- 614917
- Clinvar variants
- Variants in RMND1
- Penetrance
- None
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Mitochondrial disorders
- Intellectual disability
- Early onset or syndromic epilepsy
- Renal tubulopathies
- Unexplained young onset end-stage renal disease - additional genes
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Likely inborn error of metabolism
- Possible mitochondrial disorder - nuclear genes
- Fetal anomalies
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