Mitochondrial disease
Gene: RMND1

RMND1 (required for meiotic nuclear division 1 homolog)
EnsemblGeneIds (GRCh38): ENSG00000155906
EnsemblGeneIds (GRCh37): ENSG00000155906
OMIM: 614917, Gene2Phenotype
RMND1 is in 11 panels

1 review

Belinda Chong (Victorian Clinical Genetics Services)

Green List (high evidence)

COXPD11 is a severe multisystemic autosomal recessive disorder characterized by neonatal hypotonia and lactic acidosis. Affected individuals may have respiratory insufficiency, foot deformities, or seizures, and all reported patients have died in infancy. Biochemical studies show deficiencies of multiple mitochondrial respiratory enzymes.
Created: 2 Jun 2022, 3:05 a.m. | Last Modified: 2 Jun 2022, 3:05 a.m.

Panel Version: 0.829

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 11 MIM#614922

Publications

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

Created: 2 Jun 2022, 3:05 a.m.
Last Modified: 2 Jun 2022, 3:05 a.m.
Panel version: 0.829

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Mitochondrial Flagship

Phenotypes

Combined oxidative phosphorylation deficiency 11 MIM#614922

OMIM

614917

Clinvar variants

Variants in RMND1

Penetrance

None

Publications

Panels with this gene