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  3. RMND1
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Rhabdomyolysis and Metabolic Myopathy

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 11 panels

2 reviews

Belinda Chong (Victorian Clinical Genetics Services)

Green List (high 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.

Structural renal anomalies, including renal cysts/dysplasia, club foot reported.
Created: 16 May 2022, 12:12 a.m. | Last Modified: 16 May 2022, 12:12 a.m.
Panel Version: 0.14341

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 11 MIM#614922

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

Created: 16 May 2022, 12:12 a.m.
Last Modified: 16 May 2022, 12:12 a.m.
Panel version: Imported from Mendeliome panel version 0.14341

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

>3 unrelated cases with myopathy, paediatric onset.
Sources: Expert Review
Created: 24 Feb 2020, 8:13 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 11 MIM#614922

Publications

Created: 24 Feb 2020, 8:13 a.m.

Panel version: Imported from Myopathy - paediatric onset panel version 0.58

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Expert Review
Phenotypes
  • Combined oxidative phosphorylation defect type 11 MONDO:0013969
OMIM
614917
Clinvar variants
Variants in RMND1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: rmnd1 has been classified as Green List (High Evidence).

5 Jun 2023, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: RMND1 was added gene: RMND1 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Other Mode of inheritance for gene: RMND1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RMND1 were set to 23022099; 25604853; 27843092 Phenotypes for gene: RMND1 were set to Combined oxidative phosphorylation defect type 11 MONDO:0013969