Fetal anomalies
Gene: RMND1

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Structural renal anomalies, including renal cysts/dysplasia, club foot reported.
Created: 16 Feb 2022, 10:18 p.m. | Last Modified: 16 Feb 2022, 10:18 p.m.

Panel Version: 0.3570

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 11, MIM# MIM#614922

Created: 16 Feb 2022, 10:18 p.m.
Last Modified: 16 Feb 2022, 10:18 p.m.
Panel version: 0.3570

Belinda Chong (Victorian Clinical Genetics Services)

Red List (low evidence)

>3 unrelated cases with myopathy, paediatric onset.

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 Feb 2022, 11:54 p.m. | Last Modified: 2 Feb 2022, 11:54 p.m.

Panel Version: 0.3138

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 Feb 2022, 11:54 p.m.
Last Modified: 2 Feb 2022, 11:54 p.m.
Panel version: 0.3138

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Genomics England PanelApp

Phenotypes

Combined oxidative phosphorylation deficiency 11, MIM# MIM#614922

OMIM

614917

Clinvar variants

Variants in RMND1

Penetrance

None

Publications

Panels with this gene