Fetal anomalies
Gene: RMND1
The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.Created: 10 Oct 2023, 3:39 p.m. | Last Modified: 10 Oct 2023, 3:39 p.m.
Panel Version: 3.111
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
This gene and phenotype were reviewed during a meeting on 23rd Feb 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Natalie Chandler (North Thames GLH), and Stephanie Allen, Esther Kinning and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.Created: 5 May 2023, 3 p.m. | Last Modified: 5 May 2023, 3 p.m.
Panel Version: 3.8
On 10 panels, inc. DDG2P, severe paediatric disorders, fetal anomalies, IEM. Associated with Combined oxidative phosphorylation deficiency 11 (AR). Notes on R21: DDG2P rating in original PAGE list: Probable for ENCEPHALOPATHY ASSOCIATED WITH MULTIPLE OXIDATIVE PHOSPHORYLATION COMPLEX DEFICIENCIES AND A MITOCHONDRIAL TRANSLATION DEFECT. Janer et al., 2015 PMID 25604853: Patient: pregnancy complicated by oligohydramnios of unknown cause. Ng et al., 2016 PMID 27412952: Patient 1: born at 32wks; pregnancy complicated by severe oligohydramnios, bilateral nephromegaly. Birth weight 90th centile -> failure to thrive -> 5th centile. Patient 2: born at 37wks; pregnancy complicated by oligohydramnios, renal impairment from 1yo (hyperechogenicity) -> end-stage renal failure and cardiomyopathy at 10yo. Patient 3: born at 31wks; pregnancy complicated by oligohydramnios and poor growth. Cardiac and renal problems -> cardiac arrest died 3yo.Patient 11.1: mother had one previous early pregnancy termination for multiple congenital anomalies. Conclusion: link to prenatal phenotypes (oligohydramnios, poor growth, bilateral nephromegaly). Relevant but soft markers?Created: 5 May 2023, 3 p.m. | Last Modified: 5 May 2023, 3 p.m.
Panel Version: 3.8
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 11, OMIM:614922
Publications
DDG2P rating in original PAGE list: Probable for ENCEPHALOPATHY ASSOCIATED WITH MULTIPLE OXIDATIVE PHOSPHORYLATION COMPLEX DEFICIENCIES AND A MITOCHONDRIAL TRANSLATION DEFECTCreated: 11 Dec 2018, 9:05 a.m.
In the original PAGE file, MOP listed as All missense/in frame.Created: 8 Nov 2018, 4:45 p.m.
Mode of pathogenicity
Other - please provide details in the comments
Tag Q2_23_promote_green was removed from gene: RMND1. Tag Q2_23_NHS_review was removed from gene: RMND1.
Source Expert Review Green was added to RMND1. Source NHS GMS was added to RMND1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Phenotypes for gene: RMND1 were changed from ENCEPHALOPATHY ASSOCIATED WITH MULTIPLE OXIDATIVE PHOSPHORYLATION COMPLEX DEFICIENCIES AND A MITOCHONDRIAL TRANSLATION DEFECT; Combined oxidative phosphorylation deficiency 11, OMIM:614922 to Combined oxidative phosphorylation deficiency 11, OMIM:614922
Publications for gene: RMND1 were set to
Tag Q2_23_promote_green tag was added to gene: RMND1. Tag Q2_23_NHS_review tag was added to gene: RMND1.
Added phenotypes Combined oxidative phosphorylation deficiency 11, OMIM:614922 for gene: RMND1
gene: RMND1 was added gene: RMND1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: RMND1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RMND1 were set to ENCEPHALOPATHY ASSOCIATED WITH MULTIPLE OXIDATIVE PHOSPHORYLATION COMPLEX DEFICIENCIES AND A MITOCHONDRIAL TRANSLATION DEFECT