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| Unexplained young onset end-stage renal disease v4.3 | RMND1 | Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: RMND1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v4.3 | RMND1 | Arina Puzriakova reviewed gene: RMND1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v4.2 | RMND1 |
Achchuthan Shanmugasundram 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) |
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| Unexplained young onset end-stage renal disease v3.34 | RMND1 | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As this gene has been tagged for promotion to green rating in 'R198 Renal tubulopathies' panel (https://panelapp.genomicsengland.co.uk/panels/292/gene/RMND1/), this gene should be promoted to green rating in this panel as well.; to: Comment on list classification: As this gene has been tagged for promotion to green rating in 'R198 Renal tubulopathies' panel (https://panelapp.genomicsengland.co.uk/panels/292/gene/RMND1/), this gene should be promoted to green rating in this panel as well. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v3.34 | RMND1 | Achchuthan Shanmugasundram Classified gene: RMND1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v3.34 | RMND1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: As this gene has been tagged for promotion to green rating in 'R198 Renal tubulopathies' panel (https://panelapp.genomicsengland.co.uk/panels/292/gene/RMND1/), this gene should be promoted to green rating in this panel as well. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v3.34 | RMND1 | Achchuthan Shanmugasundram Gene: rmnd1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v3.33 | RMND1 | Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: RMND1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v3.33 | RMND1 |
Achchuthan Shanmugasundram gene: RMND1 was added gene: RMND1 was added to Unexplained young onset end-stage renal disease. Sources: Literature Mode of inheritance for gene: RMND1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RMND1 were set to 31568715; 31889854; 32911714 Phenotypes for gene: RMND1 were set to Combined oxidative phosphorylation deficiency 11, OMIM:614922 Review for gene: RMND1 was set to GREEN Added comment: 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. Sources: Literature |
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