Callosome

Gene: RMND1

Green List (high evidence)

Well established gene-disease association. Thin CC reported.

Created: 2 Jun 2022, 2:41 a.m. | Last Modified: 2 Jun 2022, 2:41 a.m.

Panel Version: 0.452

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 11 MIM#614922

Green List (high evidence)

Janer et al. (2012) reported a female infant, born of consanguineous parents, with encephalopathy and lactic acidosis. She was normal at birth, but developed seizures on day 6 and had severe hypotonia requiring tube feeding. At 4 months of age, she had unremitting seizures and her head circumference was not increasing; she died at age 5 months. Postmortem examination showed marked cortical atrophy, and atrophic cord, ventricular dilation, and a thin corpus callosum.

Created: 2 Jun 2022, 2:03 a.m. | Last Modified: 2 Jun 2022, 2:03 a.m.

Panel Version: 0.452

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 11 MIM#614922

Publications

• 23022098

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