Activity
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| Unexplained young onset end-stage renal disease - additional genes v1.3 | SIX5 | Arina Puzriakova Classified gene: SIX5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v1.3 | SIX5 | Arina Puzriakova Added comment: Comment on list classification: As the evidence for the association of SIX5 with branchio-oto-renal syndrome is disputed, this gene should be considered for demotion to red rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v1.3 | SIX5 | Arina Puzriakova Gene: six5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v1.2 | SIX5 |
Arina Puzriakova Tag Q3_25_expert_review tag was added to gene: SIX5. Tag disputed tag was added to gene: SIX5. Tag Q3_25_demote_red tag was added to gene: SIX5. |
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| Unexplained young onset end-stage renal disease - additional genes v1.2 | SIX5 | Arina Puzriakova edited their review of gene: SIX5: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v1.2 | SIX5 | Arina Puzriakova commented on gene: SIX5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v1.2 | Achchuthan Shanmugasundram Panel version 1.1 has been signed off on 2025-04-30 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v1.1 | Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2024-10-30 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v1.0 | Achchuthan Shanmugasundram promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.131 | Achchuthan Shanmugasundram Panel types changed to Component Of Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.129 | Achchuthan Shanmugasundram Panel status changed from internal to public | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.128 | Achchuthan Shanmugasundram Panel status changed from public to internal | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.127 | Achchuthan Shanmugasundram Panel status changed from internal to public | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.126 | PRDM15 | Arina Puzriakova Tag gene-checked tag was added to gene: PRDM15. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.126 | Achchuthan Shanmugasundram Panel status changed from public to internal | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.125 | Achchuthan Shanmugasundram Panel status changed from internal to public | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.124 | Achchuthan Shanmugasundram Panel types changed to Component Of Super Panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.122 | SOX17 | Achchuthan Shanmugasundram Phenotypes for gene: SOX17 were changed from Vesicoureteral reflux 3, 613674 to Vesicoureteral reflux 3, OMIM:613674 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.121 | SIX1 | Achchuthan Shanmugasundram Phenotypes for gene: SIX1 were changed from Branchiootorenal Spectrum Disorders to Branchiootic syndrome 3, OMIM:608389; Deafness, autosomal dominant 23, OMIM:605192 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.120 | ROBO2 | Achchuthan Shanmugasundram Phenotypes for gene: ROBO2 were changed from Vesicoureteral reflux 2, 610878; Vesicoureteral Reflux to Vesicoureteral reflux 2, OMIM:610878 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.119 | MYH11 | Achchuthan Shanmugasundram Phenotypes for gene: MYH11 were changed from Megacystis-microcolon-intestinal hypoperistalsis syndrome to Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, OMIM:619351 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.118 | DACT1 | Achchuthan Shanmugasundram Phenotypes for gene: DACT1 were changed from TBS2; ?Townes-Brocks syndrome 2,617466 to Townes-Brocks syndrome 2, OMIM:617466 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.117 | DACT1 | Achchuthan Shanmugasundram Publications for gene: DACT1 were set to 19701191; 28054444; 22610794 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.116 | COX10 | Achchuthan Shanmugasundram Phenotypes for gene: COX10 were changed from Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due tocytochrome c oxidase deficiency; Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046 to Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.115 | CHD1L | Achchuthan Shanmugasundram Phenotypes for gene: CHD1L were changed from Renal or urinary tract malformation (CAKUT); ORPHA93545 to congenital anomaly of kidney and urinary tract, MONDO:0019719 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.114 | CHD1L | Achchuthan Shanmugasundram Publications for gene: CHD1L were set to 24429398; 22146311 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.113 | BMP4 | Achchuthan Shanmugasundram Phenotypes for gene: BMP4 were changed from to Microphthalmia, syndromic 6, OMIM:607932 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.112 | BICC1 | Achchuthan Shanmugasundram Phenotypes for gene: BICC1 were changed from {Renal dysplasia, cystic, susceptibility to}, 601331 to {Renal dysplasia, cystic, susceptibility to}, OMIM:601331 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.111 | ACTA2 | Achchuthan Shanmugasundram Phenotypes for gene: ACTA2 were changed from Multi system smooth muscle dysfunction to Smooth muscle dysfunction syndrome, OMIM:613834 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.110 | WDR72 | Achchuthan Shanmugasundram Phenotypes for gene: WDR72 were changed from distal renal tubular acidosis, MONDO:0015827; hereditary distal renal tubular acidosis; Amelogenesis imperfecta, type IIA3, OMIM:613211; amelogenesis imperfecta hypomaturation type 2A3, MONDO:0013181 to distal renal tubular acidosis, MONDO:0015827; Amelogenesis imperfecta, type IIA3, OMIM:613211; amelogenesis imperfecta hypomaturation type 2A3, MONDO:0013181 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.109 | WDR72 | Achchuthan Shanmugasundram Publications for gene: WDR72 were set to 30779877; 33033857; 30028003; 31959358 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.108 | TRAP1 | Achchuthan Shanmugasundram Phenotypes for gene: TRAP1 were changed from CAKUT; VACTERL 192350 to CAKUT; VATER/VACTERL ASSOCIATION, OMIM:192350 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.107 | TBX18 | Achchuthan Shanmugasundram Phenotypes for gene: TBX18 were changed from Congenital anomalies of kidney and urinary tract 2 143400 to Congenital anomalies of kidney and urinary tract 2, OMIM:143400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.106 | TBX18 | Achchuthan Shanmugasundram Publications for gene: TBX18 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.105 | SIX5 | Achchuthan Shanmugasundram Phenotypes for gene: SIX5 were changed from Branchiootorenal syndrome 2, 610896 to Branchiootorenal syndrome 2, OMIM:610896 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.104 | SALL1 | Achchuthan Shanmugasundram Phenotypes for gene: SALL1 were changed from Townes-Brocks branchiootorenal-like syndrome, 107480; Townes-Brocks syndrome, 107480; imperforate anus, ear abnormalities, thumb abnormalities to Townes-Brocks branchiootorenal-like syndrome, OMIM:107480; Townes-Brocks syndrome 1, OMIM:107480 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.103 | RRM2B | Achchuthan Shanmugasundram Phenotypes for gene: RRM2B were changed from Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075; Mitochondrial DNA depletion syndrome 8A (encephalomyopathic,renal tubulopathy), 612075 to Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), OMIM:612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type), OMIM:612075; Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction, OMIM:268315 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.102 | RMND1 | Achchuthan Shanmugasundram Publications for gene: RMND1 were set to 32911714; 31889854; 31568715 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.101 | RET | Achchuthan Shanmugasundram Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.101 | RET | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: 191830 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.101 | RET | Achchuthan Shanmugasundram Phenotypes for gene: RET were changed from {Hirschsprung disease, susceptibility to, 1}, 142623; Multiple endocrine neoplasia IIA, 171400; Renal Adysplasia; Pheochromocytoma, 171300; Renal agenesis, 191830; Central hypoventilation syndrome, congenital, 209880; Multiple endocrine neoplasia IIB, 162300; Medullary thyroid carcinoma, 155240 to {Hirschsprung disease, susceptibility to, 1}, OMIM:142623; Multiple endocrine neoplasia IIA, OMIM:171400; Multiple endocrine neoplasia IIB, OMIM:162300; Pheochromocytoma, OMIM:171300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.100 | PBX1 | Achchuthan Shanmugasundram Phenotypes for gene: PBX1 were changed from CAKUT to Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, OMIM:617641 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.99 | LRIG2 | Achchuthan Shanmugasundram Phenotypes for gene: LRIG2 were changed from Congenital bladder disease: dyssynergic, high pressure bladder.; Urofacial syndrome; Urofacial syndrome 2 615112 to Urofacial syndrome 2, OMIM:615112; Congenital bladder disease: dyssynergic, high pressure bladder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.98 | LRIG2 | Achchuthan Shanmugasundram Publications for gene: LRIG2 were set to Stuart HM, Roberts NA, Bergu B, Daly SB, Urquhart JE, Bhaskar S, Dickerson J, Mermerkaya M, Silay MS, Lewis MA, Olondriz BO, Gener B, Beetz C, Varga RE, G lp nar O, S er E, Yal nkaya F, G c k A, Yue WW, Erdogan F, Berry A, Hanley NA, McKenzie EA, Hilton EN, Woolf AS, Newman WG. LRIG2 mutations cause urofacial syndrome. Am J Hum Genet 92:259-264, 2013. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.97 | KYNU | Achchuthan Shanmugasundram Phenotypes for gene: KYNU were changed from Hydroxykynureninuria (Disorders of histidine, tryptophan or lysine metabolism); VACTERL-like phenotype; ?Hydroxykynureninuria, 236800; multiple congenital malformations to Vertebral, cardiac, renal, and limb defects syndrome 2, OMIM:617661 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.96 | KYNU | Achchuthan Shanmugasundram Publications for gene: KYNU were set to 28792876; 27604308; 17334708 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.95 | ITGA8 | Achchuthan Shanmugasundram Phenotypes for gene: ITGA8 were changed from Renal hypodysplasia/aplasia 1, 191830 to Renal hypodysplasia/aplasia 1, OMIM:191830 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.94 | ISCA-37401-Loss | Achchuthan Shanmugasundram Phenotypes for Region: ISCA-37401-Loss were changed from 194072; Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome to Wilms tumor, aniridia, genitourinary anomalies and impaired intellectual development syndrome, OMIM:194072 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.93 | HPSE2 | Achchuthan Shanmugasundram Phenotypes for gene: HPSE2 were changed from Urofacial Syndrome; Urofacial syndrome 1 236730; Congenital bladder disease: dyssynergic, high pressure bladder to Urofacial syndrome 1, OMIM:236730; Congenital bladder disease: dyssynergic, high pressure bladder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.92 | HAAO | Achchuthan Shanmugasundram Phenotypes for gene: HAAO were changed from Multiple congenital malformations; VACTERL-like phenotype to Vertebral, cardiac, renal, and limb defects syndrome 1, OMIM:617660 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.91 | HAAO | Achchuthan Shanmugasundram Publications for gene: HAAO were set to 28792876; 27604308; 17334708 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.90 | GRIP1 | Achchuthan Shanmugasundram Phenotypes for gene: GRIP1 were changed from Fraser syndrome; isolated CAKUT; Fraser syndrome 219000 to Fraser syndrome 3, OMIM:617667 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.89 | GATA3 | Achchuthan Shanmugasundram Phenotypes for gene: GATA3 were changed from Hypoparathyroidism, Sensorineural Deafness, and Renal Disease; Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255 to Hypoparathyroidism, sensorineural deafness, and renal dysplasia, OMIM:146255 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.88 | FREM2 | Achchuthan Shanmugasundram Phenotypes for gene: FREM2 were changed from Fraser syndrome; Fraser syndrome 219000 to Fraser syndrome 2, OMIM:617666 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.87 | FREM1 | Achchuthan Shanmugasundram Phenotypes for gene: FREM1 were changed from Bifid nose with or without anorectal and renal anomalies, 608980 to Bifid nose with or without anorectal and renal anomalies, OMIM:608980 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.86 | FREM1 | Achchuthan Shanmugasundram Publications for gene: FREM1 were set to PMID: 24700879 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.85 | FREM1 | Achchuthan Shanmugasundram Publications for gene: FREM1 were set to PMID: 24700879 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.84 | FRAS1 | Achchuthan Shanmugasundram Phenotypes for gene: FRAS1 were changed from Fraser syndrome; Fraser syndrome 219000 to Fraser syndrome 1, OMIM:219000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.83 | FAN1 | Achchuthan Shanmugasundram Phenotypes for gene: FAN1 were changed from chronic kidney disease; karyomegalic interstitial nephritis, MONDO:0013898; interstitial nephritis; Interstitial nephritis, karyomegalic, OMIM:614817 to Interstitial nephritis, karyomegalic, OMIM:614817; karyomegalic interstitial nephritis, MONDO:0013898; chronic kidney disease | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.82 | EYA1 | Achchuthan Shanmugasundram Phenotypes for gene: EYA1 were changed from Anterior segment anomalies with or without cataract, 113650; Branchiootorenal Spectrum Disorders; Otofaciocervical syndrome, 166780; Branchiootorenal syndrome 1, with or without cataracts; Branchiootorenal syndrome 1, with or without cataracts, 113650; Branchiootic syndrome 1, 602588 to Branchiootorenal syndrome 1, with or without cataracts, OMIM:113650 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.81 | DSTYK | Achchuthan Shanmugasundram Phenotypes for gene: DSTYK were changed from vesicoureteric reflux; CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1; Renal hypodysplasia; {Congenital anomalies of kidney and urinary tract, susceptibility to}, 610805; ureteropelvic junction obstruction; {Congenital anomalies of kidney and urinary tract, susceptibility to} to Congenital anomalies of kidney and urinary tract 1, OMIM:610805 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.80 | CHRM3 | Achchuthan Shanmugasundram Phenotypes for gene: CHRM3 were changed from Megacystis; Urinary Bladder Disease; Prune belly syndrome, OMIM:100100 to Prune belly syndrome, OMIM:100100; Megacystis; Urinary Bladder Disease | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.79 | CHRM3 | Achchuthan Shanmugasundram Publications for gene: CHRM3 were set to 31441039; 22077972; 10944224 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.78 | CHD7 | Achchuthan Shanmugasundram Phenotypes for gene: CHD7 were changed from CHARGE syndrome 214800 to CHARGE syndrome, OMIM:214800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.77 | C3 | Achchuthan Shanmugasundram Phenotypes for gene: C3 were changed from C3 deficiency 613779 AR; {Hemolytic uremic syndrome, atypical, susceptibility to, 5} 612925 AD to C3 deficiency, OMIM:613779; {Hemolytic uremic syndrome, atypical, susceptibility to, 5}, OMIM:612925 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.76 | BNC2 | Achchuthan Shanmugasundram Phenotypes for gene: BNC2 were changed from Congenital lower urinary-tract obstruction; Lower urinary tract obstruction, congenital, 618612; Posterior urethral valves; PUV to Lower urinary tract obstruction, congenital, OMIM:618612 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.75 | ARMC9 | Achchuthan Shanmugasundram Phenotypes for gene: ARMC9 were changed from Joubert syndrome 30, 617622 to Joubert syndrome 30, OMIM:617622 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.74 | ANOS1 | Achchuthan Shanmugasundram Phenotypes for gene: ANOS1 were changed from Kallman syndrome; Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) to Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), OMIM:308700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.73 | ACTG2 | Achchuthan Shanmugasundram Publications for gene: ACTG2 were set to PMID: 25998219 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.72 | AGTR1 | Achchuthan Shanmugasundram Phenotypes for gene: AGTR1 were changed from Hypertension, essential, 145500; Renal Tubular Dysgenesis; Renal tubular dysgenesis, 267430 to Renal tubular dysgenesis, OMIM:267430 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.71 | AGT | Achchuthan Shanmugasundram Phenotypes for gene: AGT were changed from Renal tubular dysgenesis, 267430; Renal Tubular Dysgenesis; {Hypertension, essential, susceptibility to}, 145500{Preeclampsia, susceptibility to}Renal tubular dysgenesis, 267430 to Renal tubular dysgenesis, OMIM:267430 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.70 | ACTG2 | Achchuthan Shanmugasundram Phenotypes for gene: ACTG2 were changed from Berdon syndrome; visceral myopathy; Megacystis-microcolon intestinal hypoperistalsis syndrome; Visceral myopathy (Megacystis-microcolon intestinal hypoperistalsis syndrome, Berdon syndrome) 155310 to Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, OMIM:619431; Visceral myopathy 1, OMIM:155310; Berdon syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.69 | ACE | Achchuthan Shanmugasundram Phenotypes for gene: ACE were changed from {Myocardial infarction, susceptibility to}{Alzheimer disease, susceptibility to}, 104300{Microvascular complications of diabetes 3}, 612624[Angiotensin I-converting enzyme, benign serum increase]{SARS, progression of}Renal tubular; Renal Tubular Dysgenesis; Renal Tubular Dysgenesis 267430 to Renal tubular dysgenesis, OMIM:267430 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.68 | ACE | Achchuthan Shanmugasundram edited their review of gene: ACE: Changed phenotypes to: Renal tubular dysgenesis, OMIM:267430 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.68 | ISCA-37401-Loss | Achchuthan Shanmugasundram Triplosensitivity Score for ISCA-37401-Loss was changed from None to . | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.68 | WDR72 |
Achchuthan Shanmugasundram Added phenotypes distal renal tubular acidosis, MONDO:0015827; hereditary distal renal tubular acidosis; Amelogenesis imperfecta, type IIA3, OMIM:613211; amelogenesis imperfecta hypomaturation type 2A3, MONDO:0013181 for gene: WDR72 Publications for gene: WDR72 were updated from 30028003; 30779877; 31959358; 33033857 to 30779877; 33033857; 30028003; 31959358 |
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| Unexplained young onset end-stage renal disease - additional genes v0.68 | UPK3A | Achchuthan Shanmugasundram Added phenotypes Renal Adysplasia for gene: UPK3A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.68 | TRAP1 | Achchuthan Shanmugasundram Added phenotypes CAKUT; VACTERL 192350 for gene: TRAP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.68 | TBX18 | Achchuthan Shanmugasundram Added phenotypes Congenital anomalies of kidney and urinary tract 2 143400 for gene: TBX18 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.68 | SOX17 | Achchuthan Shanmugasundram Added phenotypes Vesicoureteral reflux 3, 613674 for gene: SOX17 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.68 | SIX5 | Achchuthan Shanmugasundram Added phenotypes Branchiootorenal syndrome 2, 610896 for gene: SIX5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.68 | SIX1 | Achchuthan Shanmugasundram Added phenotypes Branchiootorenal Spectrum Disorders for gene: SIX1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.68 | SALL1 | Achchuthan Shanmugasundram Added phenotypes Townes-Brocks branchiootorenal-like syndrome, 107480; Townes-Brocks syndrome, 107480; imperforate anus, ear abnormalities, thumb abnormalities for gene: SALL1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.68 | RRM2B | Achchuthan Shanmugasundram Added phenotypes Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075; Mitochondrial DNA depletion syndrome 8A (encephalomyopathic,renal tubulopathy), 612075 for gene: RRM2B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.68 | ROBO2 | Achchuthan Shanmugasundram Added phenotypes Vesicoureteral reflux 2, 610878; Vesicoureteral Reflux for gene: ROBO2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.68 | RMND1 |
Achchuthan Shanmugasundram Added phenotypes Combined oxidative phosphorylation deficiency 11, OMIM:614922 for gene: RMND1 Publications for gene: RMND1 were updated from 31568715; 31889854; 32911714 to 32911714; 31889854; 31568715 |
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| Unexplained young onset end-stage renal disease - additional genes v0.68 | RET | Achchuthan Shanmugasundram Added phenotypes {Hirschsprung disease, susceptibility to, 1}, 142623; Multiple endocrine neoplasia IIA, 171400; Renal Adysplasia; Pheochromocytoma, 171300; Renal agenesis, 191830; Central hypoventilation syndrome, congenital, 209880; Multiple endocrine neoplasia IIB, 162300; Medullary thyroid carcinoma, 155240 for gene: RET | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.68 | PBX1 | Achchuthan Shanmugasundram Added phenotypes CAKUT for gene: PBX1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.68 | MYH11 | Achchuthan Shanmugasundram Added phenotypes Megacystis-microcolon-intestinal hypoperistalsis syndrome for gene: MYH11 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.68 | LRIG2 | Achchuthan Shanmugasundram Added phenotypes Congenital bladder disease: dyssynergic, high pressure bladder.; Urofacial syndrome; Urofacial syndrome 2 615112 for gene: LRIG2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.68 | KYNU |
Achchuthan Shanmugasundram Added phenotypes Hydroxykynureninuria (Disorders of histidine, tryptophan or lysine metabolism); VACTERL-like phenotype; ?Hydroxykynureninuria, 236800; multiple congenital malformations for gene: KYNU Publications for gene: KYNU were updated from 27604308; 17334708; 28792876 to 28792876; 27604308; 17334708 |
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| Unexplained young onset end-stage renal disease - additional genes v0.68 | ITGA8 | Achchuthan Shanmugasundram Added phenotypes Renal hypodysplasia/aplasia 1, 191830 for gene: ITGA8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.68 | HPSE2 |
Achchuthan Shanmugasundram Added phenotypes Urofacial Syndrome; Urofacial syndrome 1 236730; Congenital bladder disease: dyssynergic, high pressure bladder for gene: HPSE2 Publications for gene: HPSE2 were updated from 20560210; 20560209 to 20560209; 20560210 |
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| Unexplained young onset end-stage renal disease - additional genes v0.68 | HAAO |
Achchuthan Shanmugasundram Added phenotypes Multiple congenital malformations; VACTERL-like phenotype for gene: HAAO Publications for gene: HAAO were updated from 27604308; 17334708; 28792876 to 28792876; 27604308; 17334708 |
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| Unexplained young onset end-stage renal disease - additional genes v0.68 | GRIP1 |
Achchuthan Shanmugasundram Added phenotypes Fraser syndrome; isolated CAKUT; Fraser syndrome 219000 for gene: GRIP1 Publications for gene: GRIP1 were updated from 24700879; 14730302; 24357607; 22510445 to 14730302; 24357607; 24700879; 22510445 |
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| Unexplained young onset end-stage renal disease - additional genes v0.68 | GLI3 | Achchuthan Shanmugasundram Added phenotypes Pallister-Hall syndrome, OMIM:146510 for gene: GLI3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.68 | GATA3 | Achchuthan Shanmugasundram Added phenotypes Hypoparathyroidism, Sensorineural Deafness, and Renal Disease; Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255 for gene: GATA3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.68 | FREM2 | Achchuthan Shanmugasundram Added phenotypes Fraser syndrome; Fraser syndrome 219000 for gene: FREM2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.68 | FREM1 | Achchuthan Shanmugasundram Added phenotypes Bifid nose with or without anorectal and renal anomalies, 608980 for gene: FREM1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.68 | FRAS1 | Achchuthan Shanmugasundram Added phenotypes Fraser syndrome; Fraser syndrome 219000 for gene: FRAS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.68 | FAN1 | Achchuthan Shanmugasundram Added phenotypes chronic kidney disease; karyomegalic interstitial nephritis, MONDO:0013898; interstitial nephritis; Interstitial nephritis, karyomegalic, OMIM:614817 for gene: FAN1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.68 | EYA1 | Achchuthan Shanmugasundram Added phenotypes Anterior segment anomalies with or without cataract, 113650; Branchiootorenal Spectrum Disorders; Otofaciocervical syndrome, 166780; Branchiootorenal syndrome 1, with or without cataracts; Branchiootorenal syndrome 1, with or without cataracts, 113650; Branchiootic syndrome 1, 602588 for gene: EYA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.68 | DSTYK | Achchuthan Shanmugasundram Added phenotypes vesicoureteric reflux; CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1; Renal hypodysplasia; {Congenital anomalies of kidney and urinary tract, susceptibility to}, 610805; ureteropelvic junction obstruction; {Congenital anomalies of kidney and urinary tract, susceptibility to} for gene: DSTYK | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.68 | DACT1 |
Achchuthan Shanmugasundram Added phenotypes TBS2; ?Townes-Brocks syndrome 2,617466 for gene: DACT1 Publications for gene: DACT1 were updated from 28054444; 19701191; 22610794 to 19701191; 28054444; 22610794 |
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| Unexplained young onset end-stage renal disease - additional genes v0.68 | COX10 | Achchuthan Shanmugasundram Added phenotypes Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due tocytochrome c oxidase deficiency; Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046 for gene: COX10 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.68 | CHRM3 |
Achchuthan Shanmugasundram Added phenotypes Megacystis; Urinary Bladder Disease; Prune belly syndrome, OMIM:100100 for gene: CHRM3 Publications for gene: CHRM3 were updated from 10944224; 22077972; 31441039 to 31441039; 22077972; 10944224 |
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| Unexplained young onset end-stage renal disease - additional genes v0.68 | CHD7 | Achchuthan Shanmugasundram Added phenotypes CHARGE syndrome 214800 for gene: CHD7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.68 | CHD1L | Achchuthan Shanmugasundram Added phenotypes Renal or urinary tract malformation (CAKUT); ORPHA93545 for gene: CHD1L | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.68 | BNC2 | Achchuthan Shanmugasundram Added phenotypes Congenital lower urinary-tract obstruction; Lower urinary tract obstruction, congenital, 618612; Posterior urethral valves; PUV for gene: BNC2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.68 | BICC1 | Achchuthan Shanmugasundram Added phenotypes {Renal dysplasia, cystic, susceptibility to}, 601331 for gene: BICC1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.68 | ARMC9 | Achchuthan Shanmugasundram Added phenotypes Joubert syndrome 30, 617622 for gene: ARMC9 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.68 | ANOS1 | Achchuthan Shanmugasundram Added phenotypes Kallman syndrome; Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) for gene: ANOS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.68 | AGTR1 | Achchuthan Shanmugasundram Added phenotypes Hypertension, essential, 145500; Renal Tubular Dysgenesis; Renal tubular dysgenesis, 267430 for gene: AGTR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.68 | AGT | Achchuthan Shanmugasundram Added phenotypes Renal tubular dysgenesis, 267430; Renal Tubular Dysgenesis; {Hypertension, essential, susceptibility to}, 145500{Preeclampsia, susceptibility to}Renal tubular dysgenesis, 267430 for gene: AGT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.68 | ACTG2 | Achchuthan Shanmugasundram Added phenotypes Berdon syndrome; visceral myopathy; Megacystis-microcolon intestinal hypoperistalsis syndrome; Visceral myopathy (Megacystis-microcolon intestinal hypoperistalsis syndrome, Berdon syndrome) 155310 for gene: ACTG2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.68 | ACTA2 | Achchuthan Shanmugasundram Added phenotypes Multi system smooth muscle dysfunction for gene: ACTA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.68 | ACE | Achchuthan Shanmugasundram Added phenotypes {Myocardial infarction, susceptibility to}{Alzheimer disease, susceptibility to}, 104300{Microvascular complications of diabetes 3}, 612624[Angiotensin I-converting enzyme, benign serum increase]{SARS, progression of}Renal tubular; Renal Tubular Dysgenesis; Renal Tubular Dysgenesis 267430 for gene: ACE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.67 | PRDM15 | Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: PRDM15. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.67 | NOS1AP | Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: NOS1AP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.67 | PRDM15 | Achchuthan Shanmugasundram commented on gene: PRDM15: 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 for this change on R257 Unexplained young onset end-stage renal disease panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.67 | NOS1AP | Achchuthan Shanmugasundram commented on gene: NOS1AP: 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 for this change on R257 Unexplained young onset end-stage renal disease panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.66 | PRDM15 |
Achchuthan Shanmugasundram Source Expert Review Green was added to PRDM15. Source NHS GMS was added to PRDM15. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Unexplained young onset end-stage renal disease - additional genes v0.66 | NOS1AP |
Achchuthan Shanmugasundram Source Expert Review Green was added to NOS1AP. Source NHS GMS was added to NOS1AP. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Unexplained young onset end-stage renal disease - additional genes v0.65 | ISCA-37401-Loss | Achchuthan Shanmugasundram reviewed Region: ISCA-37401-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | UPK3A | Achchuthan Shanmugasundram reviewed gene: UPK3A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | UPK2 | Achchuthan Shanmugasundram reviewed gene: UPK2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | TSHZ3 | Achchuthan Shanmugasundram reviewed gene: TSHZ3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | TNXB | Achchuthan Shanmugasundram reviewed gene: TNXB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | SPRY1 | Achchuthan Shanmugasundram reviewed gene: SPRY1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | SOX17 | Achchuthan Shanmugasundram reviewed gene: SOX17: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | SMARCA4 | Achchuthan Shanmugasundram reviewed gene: SMARCA4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | SLIT2 | Achchuthan Shanmugasundram reviewed gene: SLIT2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | SIX1 | Achchuthan Shanmugasundram reviewed gene: SIX1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | SHH | Achchuthan Shanmugasundram reviewed gene: SHH: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | ROBO2 | Achchuthan Shanmugasundram reviewed gene: ROBO2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | MYH11 | Achchuthan Shanmugasundram reviewed gene: MYH11: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | KIT | Achchuthan Shanmugasundram reviewed gene: KIT: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | HCN3 | Achchuthan Shanmugasundram reviewed gene: HCN3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | GREM1 | Achchuthan Shanmugasundram reviewed gene: GREM1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | GDNF | Achchuthan Shanmugasundram reviewed gene: GDNF: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | FOXC2 | Achchuthan Shanmugasundram reviewed gene: FOXC2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | FOXC1 | Achchuthan Shanmugasundram reviewed gene: FOXC1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | DLG3 | Achchuthan Shanmugasundram reviewed gene: DLG3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | DACT1 | Achchuthan Shanmugasundram reviewed gene: DACT1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | COX10 | Achchuthan Shanmugasundram reviewed gene: COX10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | CHD1L | Achchuthan Shanmugasundram reviewed gene: CHD1L: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | BMP4 | Achchuthan Shanmugasundram reviewed gene: BMP4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | BICC1 | Achchuthan Shanmugasundram reviewed gene: BICC1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | ACTA2 | Achchuthan Shanmugasundram reviewed gene: ACTA2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | WDR72 | Achchuthan Shanmugasundram commented on gene: WDR72: This gene has been added to this panel with green rating as it was present in R257 Unexplained young onset end-stage renal disease panel (v5.1) with the same rating before it was made a super panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | TRAP1 | Achchuthan Shanmugasundram reviewed gene: TRAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | TBX18 | Achchuthan Shanmugasundram reviewed gene: TBX18: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | SIX5 | Achchuthan Shanmugasundram reviewed gene: SIX5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | SALL1 | Achchuthan Shanmugasundram reviewed gene: SALL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | RRM2B | Achchuthan Shanmugasundram reviewed gene: RRM2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | RMND1 | Achchuthan Shanmugasundram commented on gene: RMND1: This gene has been added to this panel with green rating as it was present in R257 Unexplained young onset end-stage renal disease panel (v5.1) with the same rating before it was made a super panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | RET | Achchuthan Shanmugasundram edited their review of gene: RET: Added comment: This gene has been added to this panel with green rating as it was present in R257 Unexplained young onset end-stage renal disease panel (v5.1) with the same rating before it was made a super panel.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | PBX1 | Achchuthan Shanmugasundram reviewed gene: PBX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | LRIG2 | Achchuthan Shanmugasundram reviewed gene: LRIG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | KYNU | Achchuthan Shanmugasundram reviewed gene: KYNU: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | ITGA8 | Achchuthan Shanmugasundram reviewed gene: ITGA8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | HPSE2 | Achchuthan Shanmugasundram reviewed gene: HPSE2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | HAAO | Achchuthan Shanmugasundram reviewed gene: HAAO: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | GRIP1 | Achchuthan Shanmugasundram reviewed gene: GRIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | GLI3 | Achchuthan Shanmugasundram reviewed gene: GLI3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | GATA3 | Achchuthan Shanmugasundram reviewed gene: GATA3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | FREM2 | Achchuthan Shanmugasundram reviewed gene: FREM2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | FREM1 | Achchuthan Shanmugasundram reviewed gene: FREM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | FRAS1 | Achchuthan Shanmugasundram reviewed gene: FRAS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | FAN1 | Achchuthan Shanmugasundram reviewed gene: FAN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | EYA1 | Achchuthan Shanmugasundram reviewed gene: EYA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | DSTYK | Achchuthan Shanmugasundram reviewed gene: DSTYK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | CHRM3 | Achchuthan Shanmugasundram reviewed gene: CHRM3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | CHD7 | Achchuthan Shanmugasundram reviewed gene: CHD7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | C3 | Achchuthan Shanmugasundram reviewed gene: C3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | BNC2 | Achchuthan Shanmugasundram reviewed gene: BNC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | ARMC9 | Achchuthan Shanmugasundram reviewed gene: ARMC9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | ANOS1 | Achchuthan Shanmugasundram reviewed gene: ANOS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | AGTR1 | Achchuthan Shanmugasundram reviewed gene: AGTR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | AGT | Achchuthan Shanmugasundram reviewed gene: AGT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | ACTG2 | Achchuthan Shanmugasundram reviewed gene: ACTG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | ACE | Achchuthan Shanmugasundram reviewed gene: ACE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.64 | TBX18 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.64 | TBX18 |
Achchuthan Shanmugasundram gene: TBX18 was added gene: TBX18 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green Mode of inheritance for gene: TBX18 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TBX18 were set to Congenital anomalies of kidney and urinary tract 2 143400 |
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| Unexplained young onset end-stage renal disease - additional genes v0.63 | SIX5 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.63 | SIX5 |
Achchuthan Shanmugasundram gene: SIX5 was added gene: SIX5 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green Mode of inheritance for gene: SIX5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SIX5 were set to Branchiootorenal syndrome 2, 610896 |
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| Unexplained young onset end-stage renal disease - additional genes v0.62 | SIX1 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.62 | SIX1 |
Achchuthan Shanmugasundram gene: SIX1 was added gene: SIX1 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red Mode of inheritance for gene: SIX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SIX1 were set to Branchiootorenal Spectrum Disorders |
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| Unexplained young onset end-stage renal disease - additional genes v0.61 | SALL1 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.61 | SALL1 |
Achchuthan Shanmugasundram gene: SALL1 was added gene: SALL1 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green Mode of inheritance for gene: SALL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SALL1 were set to imperforate anus, ear abnormalities, thumb abnormalities; Townes-Brocks branchiootorenal-like syndrome, 107480; Townes-Brocks syndrome, 107480 |
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| Unexplained young onset end-stage renal disease - additional genes v0.60 | RRM2B | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.60 | RRM2B |
Achchuthan Shanmugasundram gene: RRM2B was added gene: RRM2B was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green Mode of inheritance for gene: RRM2B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RRM2B were set to Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075; Mitochondrial DNA depletion syndrome 8A (encephalomyopathic,renal tubulopathy), 612075; Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 612075 |
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| Unexplained young onset end-stage renal disease - additional genes v0.59 | ROBO2 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.59 | ROBO2 |
Achchuthan Shanmugasundram gene: ROBO2 was added gene: ROBO2 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red Mode of inheritance for gene: ROBO2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ROBO2 were set to Vesicoureteral Reflux; Vesicoureteral reflux 2, 610878 |
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| Unexplained young onset end-stage renal disease - additional genes v0.58 | RET | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.58 | RET |
Achchuthan Shanmugasundram gene: RET was added gene: RET was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: RET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RET were set to Multiple endocrine neoplasia IIB, 162300; Central hypoventilation syndrome, congenital, 209880; Multiple endocrine neoplasia IIA, 171400; Renal agenesis, 191830; {Hirschsprung disease, susceptibility to, 1}, 142623; Pheochromocytoma, 171300; Renal Adysplasia; Medullary thyroid carcinoma, 155240 |
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| Unexplained young onset end-stage renal disease - additional genes v0.57 | MYH11 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.57 | MYH11 |
Achchuthan Shanmugasundram gene: MYH11 was added gene: MYH11 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red Mode of inheritance for gene: MYH11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MYH11 were set to Megacystis-microcolon-intestinal hypoperistalsis syndrome |
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| Unexplained young onset end-stage renal disease - additional genes v0.56 | LRIG2 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.56 | LRIG2 |
Achchuthan Shanmugasundram gene: LRIG2 was added gene: LRIG2 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green Mode of inheritance for gene: LRIG2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LRIG2 were set to Stuart HM, Roberts NA, Bergu B, Daly SB, Urquhart JE, Bhaskar S, Dickerson J, Mermerkaya M, Silay MS, Lewis MA, Olondriz BO, Gener B, Beetz C, Varga RE, G lp nar O, S er E, Yal nkaya F, G c k A, Yue WW, Erdogan F, Berry A, Hanley NA, McKenzie EA, Hilton EN, Woolf AS, Newman WG. LRIG2 mutations cause urofacial syndrome. Am J Hum Genet 92:259-264, 2013. Phenotypes for gene: LRIG2 were set to Urofacial syndrome; Urofacial syndrome 2 615112; Congenital bladder disease: dyssynergic, high pressure bladder. |
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| Unexplained young onset end-stage renal disease - additional genes v0.55 | KYNU | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.55 | KYNU |
Achchuthan Shanmugasundram gene: KYNU was added gene: KYNU was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green Mode of inheritance for gene: KYNU was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KYNU were set to 27604308; 17334708; 28792876 Phenotypes for gene: KYNU were set to ?Hydroxykynureninuria, 236800; multiple congenital malformations; VACTERL-like phenotype; Hydroxykynureninuria (Disorders of histidine, tryptophan or lysine metabolism) |
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| Unexplained young onset end-stage renal disease - additional genes v0.54 | ITGA8 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.54 | ITGA8 |
Achchuthan Shanmugasundram gene: ITGA8 was added gene: ITGA8 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green Mode of inheritance for gene: ITGA8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ITGA8 were set to Renal hypodysplasia/aplasia 1, 191830 |
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| Unexplained young onset end-stage renal disease - additional genes v0.53 | HPSE2 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.53 | HPSE2 |
Achchuthan Shanmugasundram gene: HPSE2 was added gene: HPSE2 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green Mode of inheritance for gene: HPSE2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HPSE2 were set to 20560210; 20560209 Phenotypes for gene: HPSE2 were set to Congenital bladder disease: dyssynergic, high pressure bladder; Urofacial syndrome 1 236730; Urofacial Syndrome |
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| Unexplained young onset end-stage renal disease - additional genes v0.52 | HAAO | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.52 | HAAO |
Achchuthan Shanmugasundram gene: HAAO was added gene: HAAO was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green Mode of inheritance for gene: HAAO was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HAAO were set to 27604308; 17334708; 28792876 Phenotypes for gene: HAAO were set to VACTERL-like phenotype; Multiple congenital malformations |
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| Unexplained young onset end-stage renal disease - additional genes v0.51 | GRIP1 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.51 | GRIP1 |
Achchuthan Shanmugasundram gene: GRIP1 was added gene: GRIP1 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green Mode of inheritance for gene: GRIP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GRIP1 were set to 24700879; 14730302; 24357607; 22510445 Phenotypes for gene: GRIP1 were set to Fraser syndrome 219000; Fraser syndrome; isolated CAKUT |
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| Unexplained young onset end-stage renal disease - additional genes v0.50 | GLI3 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.50 | GLI3 |
Achchuthan Shanmugasundram gene: GLI3 was added gene: GLI3 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green Mode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GLI3 were set to Pallister-Hall syndrome, OMIM:146510 |
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| Unexplained young onset end-stage renal disease - additional genes v0.49 | FREM2 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.49 | FREM2 |
Achchuthan Shanmugasundram gene: FREM2 was added gene: FREM2 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green Mode of inheritance for gene: FREM2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FREM2 were set to Fraser syndrome 219000; Fraser syndrome |
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| Unexplained young onset end-stage renal disease - additional genes v0.48 | FREM1 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.48 | FREM1 |
Achchuthan Shanmugasundram gene: FREM1 was added gene: FREM1 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green Mode of inheritance for gene: FREM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FREM1 were set to PMID: 24700879 Phenotypes for gene: FREM1 were set to Bifid nose with or without anorectal and renal anomalies, 608980 |
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| Unexplained young onset end-stage renal disease - additional genes v0.47 | FRAS1 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.47 | FRAS1 |
Achchuthan Shanmugasundram gene: FRAS1 was added gene: FRAS1 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green Mode of inheritance for gene: FRAS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FRAS1 were set to Fraser syndrome 219000; Fraser syndrome |
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| Unexplained young onset end-stage renal disease - additional genes v0.46 | DSTYK | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.46 | DSTYK |
Achchuthan Shanmugasundram gene: DSTYK was added gene: DSTYK was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green Mode of inheritance for gene: DSTYK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DSTYK were set to Renal hypodysplasia; {Congenital anomalies of kidney and urinary tract, susceptibility to}; CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1; ureteropelvic junction obstruction; {Congenital anomalies of kidney and urinary tract, susceptibility to}, 610805; vesicoureteric reflux |
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| Unexplained young onset end-stage renal disease - additional genes v0.45 | CHD7 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.45 | CHD7 |
Achchuthan Shanmugasundram gene: CHD7 was added gene: CHD7 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green Mode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CHD7 were set to CHARGE syndrome 214800 |
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| Unexplained young onset end-stage renal disease - additional genes v0.44 | CHD1L | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.44 | CHD1L |
Achchuthan Shanmugasundram gene: CHD1L was added gene: CHD1L was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red Mode of inheritance for gene: CHD1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CHD1L were set to 24429398; 22146311 Phenotypes for gene: CHD1L were set to ORPHA93545; Renal or urinary tract malformation (CAKUT) |
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| Unexplained young onset end-stage renal disease - additional genes v0.43 | ANOS1 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.43 | ANOS1 |
Achchuthan Shanmugasundram gene: ANOS1 was added gene: ANOS1 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green Mode of inheritance for gene: ANOS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ANOS1 were set to 9719154; 11531922 Phenotypes for gene: ANOS1 were set to Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1); Kallman syndrome |
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| Unexplained young onset end-stage renal disease - additional genes v0.42 | AGTR1 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.42 | AGTR1 |
Achchuthan Shanmugasundram gene: AGTR1 was added gene: AGTR1 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green Mode of inheritance for gene: AGTR1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGTR1 were set to Renal Tubular Dysgenesis; Renal tubular dysgenesis, 267430; Hypertension, essential, 145500 |
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| Unexplained young onset end-stage renal disease - additional genes v0.41 | AGT | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.41 | AGT |
Achchuthan Shanmugasundram gene: AGT was added gene: AGT was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green Mode of inheritance for gene: AGT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGT were set to Renal Tubular Dysgenesis; {Hypertension, essential, susceptibility to}, 145500{Preeclampsia, susceptibility to}Renal tubular dysgenesis, 267430; Renal tubular dysgenesis, 267430 |
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| Unexplained young onset end-stage renal disease - additional genes v0.40 | ACTG2 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.40 | ACTG2 |
Achchuthan Shanmugasundram gene: ACTG2 was added gene: ACTG2 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green Mode of inheritance for gene: ACTG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ACTG2 were set to PMID: 25998219 Phenotypes for gene: ACTG2 were set to Berdon syndrome; visceral myopathy; Visceral myopathy (Megacystis-microcolon intestinal hypoperistalsis syndrome, Berdon syndrome) 155310; Megacystis-microcolon intestinal hypoperistalsis syndrome |
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| Unexplained young onset end-stage renal disease - additional genes v0.39 | ACTA2 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.39 | ACTA2 |
Achchuthan Shanmugasundram gene: ACTA2 was added gene: ACTA2 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red Mode of inheritance for gene: ACTA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ACTA2 were set to Multi system smooth muscle dysfunction |
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| Unexplained young onset end-stage renal disease - additional genes v0.38 | WDR72 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.38 | WDR72 |
Achchuthan Shanmugasundram gene: WDR72 was added gene: WDR72 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green,NHS GMS,Expert Review Mode of inheritance for gene: WDR72 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR72 were set to 30028003; 30779877; 31959358; 33033857 Phenotypes for gene: WDR72 were set to hereditary distal renal tubular acidosis; distal renal tubular acidosis, MONDO:0015827; Amelogenesis imperfecta, type IIA3, OMIM:613211; amelogenesis imperfecta hypomaturation type 2A3, MONDO:0013181 |
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| Unexplained young onset end-stage renal disease - additional genes v0.37 | UPK3A | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.37 | UPK3A |
Achchuthan Shanmugasundram gene: UPK3A was added gene: UPK3A was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red Mode of inheritance for gene: UPK3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: UPK3A were set to Renal Adysplasia |
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| Unexplained young onset end-stage renal disease - additional genes v0.36 | UPK2 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.36 | UPK2 |
Achchuthan Shanmugasundram gene: UPK2 was added gene: UPK2 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red Mode of inheritance for gene: UPK2 was set to Other |
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| Unexplained young onset end-stage renal disease - additional genes v0.35 | TSHZ3 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.35 | TSHZ3 |
Achchuthan Shanmugasundram gene: TSHZ3 was added gene: TSHZ3 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red Mode of inheritance for gene: TSHZ3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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| Unexplained young onset end-stage renal disease - additional genes v0.34 | TRAP1 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.34 | TRAP1 |
Achchuthan Shanmugasundram gene: TRAP1 was added gene: TRAP1 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green gene-checked tags were added to gene: TRAP1. Mode of inheritance for gene: TRAP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRAP1 were set to 24152966 Phenotypes for gene: TRAP1 were set to CAKUT; VACTERL 192350 |
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| Unexplained young onset end-stage renal disease - additional genes v0.33 | TNXB | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.33 | TNXB |
Achchuthan Shanmugasundram gene: TNXB was added gene: TNXB was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red Mode of inheritance for gene: TNXB was set to Unknown |
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| Unexplained young onset end-stage renal disease - additional genes v0.32 | SPRY1 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.32 | SPRY1 |
Achchuthan Shanmugasundram gene: SPRY1 was added gene: SPRY1 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red Mode of inheritance for gene: SPRY1 was set to Unknown |
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| Unexplained young onset end-stage renal disease - additional genes v0.31 | SOX17 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.31 | SOX17 |
Achchuthan Shanmugasundram gene: SOX17 was added gene: SOX17 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red Mode of inheritance for gene: SOX17 was set to Unknown Phenotypes for gene: SOX17 were set to Vesicoureteral reflux 3, 613674 |
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| Unexplained young onset end-stage renal disease - additional genes v0.30 | SMARCA4 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.30 | SMARCA4 |
Achchuthan Shanmugasundram gene: SMARCA4 was added gene: SMARCA4 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red Mode of inheritance for gene: SMARCA4 was set to Unknown |
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| Unexplained young onset end-stage renal disease - additional genes v0.29 | SLIT2 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.29 | SLIT2 |
Achchuthan Shanmugasundram gene: SLIT2 was added gene: SLIT2 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red Mode of inheritance for gene: SLIT2 was set to Unknown |
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| Unexplained young onset end-stage renal disease - additional genes v0.28 | SHH | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.28 | SHH |
Achchuthan Shanmugasundram gene: SHH was added gene: SHH was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red Mode of inheritance for gene: SHH was set to Unknown |
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| Unexplained young onset end-stage renal disease - additional genes v0.27 | RMND1 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.27 | RMND1 |
Achchuthan Shanmugasundram gene: RMND1 was added gene: RMND1 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green,NHS GMS,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 |
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| Unexplained young onset end-stage renal disease - additional genes v0.26 | PRDM15 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.26 | PRDM15 |
Achchuthan Shanmugasundram gene: PRDM15 was added gene: PRDM15 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Amber,Literature Q2_24_promote_green tags were added to gene: PRDM15. Mode of inheritance for gene: PRDM15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRDM15 were set to 31950080; 33593823 Phenotypes for gene: PRDM15 were set to steroid-resistant nephrotic syndrome, MONDO:0044765 |
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| Unexplained young onset end-stage renal disease - additional genes v0.25 | PBX1 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.25 | PBX1 |
Achchuthan Shanmugasundram gene: PBX1 was added gene: PBX1 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green Mode of inheritance for gene: PBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PBX1 were set to 28270404; 28566479 Phenotypes for gene: PBX1 were set to CAKUT |
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| Unexplained young onset end-stage renal disease - additional genes v0.24 | NOS1AP | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.24 | NOS1AP |
Achchuthan Shanmugasundram gene: NOS1AP was added gene: NOS1AP was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Amber,Literature Q1_24_promote_green tags were added to gene: NOS1AP. Mode of inheritance for gene: NOS1AP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NOS1AP were set to 33523862 Phenotypes for gene: NOS1AP were set to Nephrotic syndrome, type 22, OMIM:619155 |
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| Unexplained young onset end-stage renal disease - additional genes v0.23 | KIT | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.23 | KIT |
Achchuthan Shanmugasundram gene: KIT was added gene: KIT was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red Mode of inheritance for gene: KIT was set to Unknown |
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| Unexplained young onset end-stage renal disease - additional genes v0.22 | ISCA-37401-Loss | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.22 | ISCA-37401-Loss |
Achchuthan Shanmugasundram Region: ISCA-37401-Loss was added Region: ISCA-37401-Loss was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green Mode of inheritance for Region: ISCA-37401-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for Region: ISCA-37401-Loss were set to 194072; Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome |
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| Unexplained young onset end-stage renal disease - additional genes v0.21 | HCN3 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.21 | HCN3 |
Achchuthan Shanmugasundram gene: HCN3 was added gene: HCN3 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red Mode of inheritance for gene: HCN3 was set to Unknown |
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| Unexplained young onset end-stage renal disease - additional genes v0.20 | GREM1 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.20 | GREM1 |
Achchuthan Shanmugasundram gene: GREM1 was added gene: GREM1 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red Mode of inheritance for gene: GREM1 was set to Unknown |
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| Unexplained young onset end-stage renal disease - additional genes v0.19 | GDNF | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.19 | GDNF |
Achchuthan Shanmugasundram gene: GDNF was added gene: GDNF was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red Mode of inheritance for gene: GDNF was set to Unknown |
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| Unexplained young onset end-stage renal disease - additional genes v0.18 | GATA3 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.18 | GATA3 |
Achchuthan Shanmugasundram gene: GATA3 was added gene: GATA3 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green Mode of inheritance for gene: GATA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GATA3 were set to Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255; Hypoparathyroidism, Sensorineural Deafness, and Renal Disease |
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| Unexplained young onset end-stage renal disease - additional genes v0.17 | FOXC2 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.17 | FOXC2 |
Achchuthan Shanmugasundram gene: FOXC2 was added gene: FOXC2 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red Mode of inheritance for gene: FOXC2 was set to Unknown |
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| Unexplained young onset end-stage renal disease - additional genes v0.16 | FOXC1 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.16 | FOXC1 |
Achchuthan Shanmugasundram gene: FOXC1 was added gene: FOXC1 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red Mode of inheritance for gene: FOXC1 was set to Unknown |
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| Unexplained young onset end-stage renal disease - additional genes v0.15 | FAN1 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.15 | FAN1 |
Achchuthan Shanmugasundram gene: FAN1 was added gene: FAN1 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review,Expert Review Green Mode of inheritance for gene: FAN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAN1 were set to 22772369; 35931300 Phenotypes for gene: FAN1 were set to interstitial nephritis; chronic kidney disease; Interstitial nephritis, karyomegalic, OMIM:614817; karyomegalic interstitial nephritis, MONDO:0013898 |
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| Unexplained young onset end-stage renal disease - additional genes v0.14 | EYA1 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.14 | EYA1 |
Achchuthan Shanmugasundram gene: EYA1 was added gene: EYA1 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green Mode of inheritance for gene: EYA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: EYA1 were set to Branchiootorenal syndrome 1, with or without cataracts, 113650; Otofaciocervical syndrome, 166780; Branchiootic syndrome 1, 602588; Branchiootorenal syndrome 1, with or without cataracts; Branchiootorenal Spectrum Disorders; Anterior segment anomalies with or without cataract, 113650 |
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| Unexplained young onset end-stage renal disease - additional genes v0.13 | DLG3 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.13 | DLG3 |
Achchuthan Shanmugasundram gene: DLG3 was added gene: DLG3 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red Mode of inheritance for gene: DLG3 was set to Unknown |
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| Unexplained young onset end-stage renal disease - additional genes v0.12 | DACT1 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.12 | DACT1 |
Achchuthan Shanmugasundram gene: DACT1 was added gene: DACT1 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red Mode of inheritance for gene: DACT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DACT1 were set to 28054444; 19701191; 22610794 Phenotypes for gene: DACT1 were set to ?Townes-Brocks syndrome 2,617466; TBS2 |
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| Unexplained young onset end-stage renal disease - additional genes v0.11 | COX10 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.11 | COX10 |
Achchuthan Shanmugasundram gene: COX10 was added gene: COX10 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red Mode of inheritance for gene: COX10 was set to Unknown Phenotypes for gene: COX10 were set to Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046; Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due tocytochrome c oxidase deficiency |
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| Unexplained young onset end-stage renal disease - additional genes v0.10 | CHRM3 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.10 | CHRM3 |
Achchuthan Shanmugasundram gene: CHRM3 was added gene: CHRM3 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: CHRM3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHRM3 were set to 10944224; 22077972; 31441039 Phenotypes for gene: CHRM3 were set to Prune belly syndrome, OMIM:100100; Megacystis; Urinary Bladder Disease |
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| Unexplained young onset end-stage renal disease - additional genes v0.9 | C3 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.9 | C3 |
Achchuthan Shanmugasundram gene: C3 was added gene: C3 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green Mode of inheritance for gene: C3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: C3 were set to 15781264; 18796626 Phenotypes for gene: C3 were set to C3 deficiency 613779 AR; {Hemolytic uremic syndrome, atypical, susceptibility to, 5} 612925 AD |
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| Unexplained young onset end-stage renal disease - additional genes v0.8 | BNC2 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.8 | BNC2 |
Achchuthan Shanmugasundram gene: BNC2 was added gene: BNC2 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green,Other Mode of inheritance for gene: BNC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BNC2 were set to 31051115 Phenotypes for gene: BNC2 were set to Posterior urethral valves; PUV; Congenital lower urinary-tract obstruction; Lower urinary tract obstruction, congenital, 618612 Mode of pathogenicity for gene: BNC2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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| Unexplained young onset end-stage renal disease - additional genes v0.7 | BMP4 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.7 | BMP4 |
Achchuthan Shanmugasundram gene: BMP4 was added gene: BMP4 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red Mode of inheritance for gene: BMP4 was set to Unknown |
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| Unexplained young onset end-stage renal disease - additional genes v0.6 | BICC1 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.6 | BICC1 |
Achchuthan Shanmugasundram gene: BICC1 was added gene: BICC1 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red Mode of inheritance for gene: BICC1 was set to Unknown Phenotypes for gene: BICC1 were set to {Renal dysplasia, cystic, susceptibility to}, 601331 |
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| Unexplained young onset end-stage renal disease - additional genes v0.5 | ARMC9 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.5 | ARMC9 |
Achchuthan Shanmugasundram gene: ARMC9 was added gene: ARMC9 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: ARMC9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARMC9 were set to 28625504 Phenotypes for gene: ARMC9 were set to Joubert syndrome 30, 617622 |
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| Unexplained young onset end-stage renal disease - additional genes v0.4 | ACE | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.4 | ACE |
Achchuthan Shanmugasundram gene: ACE was added gene: ACE was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green Mode of inheritance for gene: ACE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACE were set to Renal Tubular Dysgenesis; {Myocardial infarction, susceptibility to}{Alzheimer disease, susceptibility to}, 104300{Microvascular complications of diabetes 3}, 612624[Angiotensin I-converting enzyme, benign serum increase]{SARS, progression of}Renal tubular; Renal Tubular Dysgenesis 267430 |
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| Unexplained young onset end-stage renal disease - additional genes v0.3 | Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease Virtual; Component Of Super Panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.2 | Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; Component Of Super Panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.1 | Achchuthan Shanmugasundram Panel types changed to Component Of Super Panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.0 |
Achchuthan Shanmugasundram Added Panel Unexplained young onset end-stage renal disease - additional genes Set panel types to: GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel |
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