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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

1 review

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

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 (OMIM)
Created: 6 Jan 2025, 2:46 a.m. | Last Modified: 6 Jan 2025, 2:46 a.m.
Panel Version: 1.992

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 11, MIM#614922

Publications

Created: 6 Jan 2025, 2:46 a.m.
Last Modified: 6 Jan 2025, 2:46 a.m.
Panel version: 1.992

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Combined oxidative phosphorylation deficiency 11, MIM#614922
OMIM
614917
Clinvar variants
Variants in RMND1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RMND1 were changed from Combined oxidative phosphorylation deficiency 11, 614922 (3) to Combined oxidative phosphorylation deficiency 11, MIM#614922

17 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RMND1 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Combined oxidative phosphorylation deficiency 11, 614922 (3) for gene: RMND1

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RMND1 was added gene: RMND1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green 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 (3)