Renal tubulopathies
Gene: RMND1
Comment on list classification: There is sufficient evidence for this gene to be promoted to green rating at the next GMS review.Created: 4 Aug 2023, 10:32 p.m. | Last Modified: 4 Aug 2023, 10:32 p.m.
Panel Version: 4.3
PMID:31568715 - Four patients identified with pathogenic variants in RMND1 were reported with renal disease characterised by tubulopathy (3/4), renal tubular acidosis (2/4), interstitial nephritis (1/4), and/or end-stage renal disease (4/4) necessitating renal transplantation (2/4).
PMID:31889854 - A very rare homozygous pathogenic variant in RMND1 (p.Val211Met) was identified in a patient presenting with chronic kidney disease (CKD) and sensorineural hearing loss (SNHL).
PMID:32911714 - Compound heterozygous missense variants in RMND1 (p.Gly195Arg & p.Tyr273Ser) was identified in female siblings presenting with severe-to-profound bilateral SNHL, ovarian dysfunction and CKD that developed in the fourth decade of life.
This gene has been associated with relevant phenotypes in both OMIM (MIM #614922) and Gene2Phenotype. The clinical manifestations such as cystic kidneys, renal tubular acidosis and renal disease have been recorded as part of the OMIM phenotype.Created: 4 Aug 2023, 10:21 p.m. | Last Modified: 4 Aug 2023, 10:28 p.m.
Panel Version: 4.1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 11, OMIM:614922
Publications
Sources: Expert listCreated: 6 Jul 2023, 10:28 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
tubulopathy; renal tubular acidosis; interstitial nephritis; end-stage renal disease; tubular atrophy
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Tag Q3_23_promote_green tag was added to gene: RMND1. Tag Q3_23_NHS_review tag was added to gene: RMND1.
Gene: rmnd1 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: RMND1 were changed from tubulopathy; renal tubular acidosis; interstitial nephritis; end-stage renal disease; tubular atrophy to Combined oxidative phosphorylation deficiency 11, OMIM:614922; tubulopathy; renal tubular acidosis; interstitial nephritis; end-stage renal disease; tubular atrophy
gene: RMND1 was added gene: RMND1 was added to Renal tubulopathies. Sources: Expert list Mode of inheritance for gene: RMND1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RMND1 were set to 32911714; 31889854; 31568715 Phenotypes for gene: RMND1 were set to tubulopathy; renal tubular acidosis; interstitial nephritis; end-stage renal disease; tubular atrophy Penetrance for gene: RMND1 were set to Complete Mode of pathogenicity for gene: RMND1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: RMND1 was set to GREEN