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| Renal Tubulopathies and related disorders v1.14 | MUT | Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Associated with interstitial nephritis and chronic kidney failure. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Tubulopathies and related disorders v1.14 | MUT | Zornitza Stark Marked gene: MUT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Tubulopathies and related disorders v1.14 | MUT | Zornitza Stark Gene: mut has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Tubulopathies and related disorders v1.12 | TRPV5 |
Zornitza Stark gene: TRPV5 was added gene: TRPV5 was added to Renal Tubulopathies and related disorders. Sources: Literature Mode of inheritance for gene: TRPV5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRPV5 were set to 38528055; 14679186 Phenotypes for gene: TRPV5 were set to TRPV5-related hypercalciuria (MONDO:0009550) Review for gene: TRPV5 was set to RED Added comment: Not a well-established gene-disease association. Has only been reported in one consanguineous family. PMID: 38528055 3 individuals from the same family affected with hypercalciuria. Biallelic Met598Val variant was identified in the proband and his two affect sibs Functional assay using WT and mutant plasmid vectors were transfected into HEK293T cells. The assay showed that the mutant vector had a non-functional TRPV5 channel as compared to the WT however no positive control was used. PMID: 14679186 TRPV5 knockout mice model was used to assess whether the abolishment of TRPV5 led to a disruption in Ca2+ handling. The effects of the disruption in Ca2+ handling resulted in bone abnormalities in the mice and is likely the cause of idiopathic hypercalciuria. Sources: Literature |
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| Renal Tubulopathies and related disorders v0.16 | GLA | Chirag Patel reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28613767, 33673160; Phenotypes: Fabry disease (MIM# 301500); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Tubulopathies and related disorders v0.4 | KL |
Zornitza Stark gene: KL was added gene: KL was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Amber Mode of inheritance for gene: KL was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: KL were set to 17710231; 31013726; 9363890 Phenotypes for gene: KL were set to Hyperphosphatemia; Tumoral calcinosis, hyperphosphatemic, familial, 3 MIM#617994 |
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| Renal Tubulopathies and related disorders v0.4 | SLC5A2 |
Zornitza Stark gene: SLC5A2 was added gene: SLC5A2 was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green Mode of inheritance for gene: SLC5A2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: SLC5A2 were set to 21165652; 12436245; 26376857 Phenotypes for gene: SLC5A2 were set to Renal glucosuria, MIM# 233100 |
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| Renal Tubulopathies and related disorders v0.4 | SLC2A9 |
Zornitza Stark gene: SLC2A9 was added gene: SLC2A9 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Tubulopathies v38.1.0,Expert Review Green Mode of inheritance for gene: SLC2A9 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: SLC2A9 were set to 19926891; 25966807; 21256783; 19026395; 21810765 Phenotypes for gene: SLC2A9 were set to Hypouricaemia, renal, 2, MIM# 612076 |
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| Renal Tubulopathies and related disorders v0.4 | PHEX |
Zornitza Stark gene: PHEX was added gene: PHEX was added to Renal Tubulopathies and related disorders. Sources: Literature,Expert Review Green Mode of inheritance for gene: PHEX was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: PHEX were set to 31065622 Phenotypes for gene: PHEX were set to Hypophosphatemic rickets, X-linked dominant; OMIM #307800 |
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| Renal Tubulopathies and related disorders v0.4 | OCRL |
Zornitza Stark gene: OCRL was added gene: OCRL was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green Mode of inheritance for gene: OCRL was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: OCRL were set to 19773212, 27625797 Phenotypes for gene: OCRL were set to Dent disease 2, MIM #300555; Lowe syndrome, MIM# 309000 |
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| Renal Tubulopathies and related disorders v0.4 | MUT |
Zornitza Stark gene: MUT was added gene: MUT was added to Renal Tubulopathies and related disorders. Sources: KidGen_MetabolicRenal v38.1.0,Expert Review Green Mode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MUT were set to 1977311; 11528502; 12948746 Phenotypes for gene: MUT were set to Methylmalonic aciduria, mut(0) type, MIM# 251000 |
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| Renal Tubulopathies and related disorders v0.4 | MAGED2 |
Zornitza Stark gene: MAGED2 was added gene: MAGED2 was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: MAGED2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: MAGED2 were set to 34895150; 35668994; 27120771 Phenotypes for gene: MAGED2 were set to Bartter syndrome, type 5, antenatal, transient, MIM# 300971 |
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| Renal Tubulopathies and related disorders v0.4 | HPRT1 |
Zornitza Stark gene: HPRT1 was added gene: HPRT1 was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: HPRT1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: HPRT1 were set to 20176575 Phenotypes for gene: HPRT1 were set to HPRT-related gout (MIM# 300323); Lesch-Nyhan syndrome (MIM# 300322) |
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| Renal Tubulopathies and related disorders v0.4 | GLA |
Zornitza Stark gene: GLA was added gene: GLA was added to Renal Tubulopathies and related disorders. Sources: KidGen_MetabolicRenal v38.1.0,Expert Review Green Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: GLA were set to 8878432; 30681346; 31613176 Phenotypes for gene: GLA were set to Fabry disease (MIM# 301500) |
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| Renal Tubulopathies and related disorders v0.4 | GCM2 |
Zornitza Stark gene: GCM2 was added gene: GCM2 was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green Mode of inheritance for gene: GCM2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: GCM2 were set to 27745835, 20190276, 34967908, 35038313 Phenotypes for gene: GCM2 were set to Hyperparathyroidism 4, OMIM #617343; Hypoparathyroidism, familial isolated 2, OMIM #618883 |
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| Renal Tubulopathies and related disorders v0.4 | CNNM2 |
Zornitza Stark gene: CNNM2 was added gene: CNNM2 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Magnesium v38.1.0,Expert Review Green Mode of inheritance for gene: CNNM2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: CNNM2 were set to 35170241; 34604137 Phenotypes for gene: CNNM2 were set to Hypomagnesemia 6, renal MIM#613882; Hypomagnesemia, seizures, and mental retardation MIM#616418 |
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| Renal Tubulopathies and related disorders v0.4 | CLCN5 |
Zornitza Stark gene: CLCN5 was added gene: CLCN5 was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: CLCN5 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: CLCN5 were set to 28580211; 8559248, 9596078 Phenotypes for gene: CLCN5 were set to Dent disease, MIM#300009; Nephrolithiasis, type I, MIM#310468; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, MIM#308990; Hypophosphatemic rickets, MIM#300554 |
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| Renal Tubulopathies and related disorders v0.4 | AVPR2 |
Zornitza Stark gene: AVPR2 was added gene: AVPR2 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Tubulopathies v38.1.0,Expert Review Green Mode of inheritance for gene: AVPR2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: AVPR2 were set to 9127330; 1356229; 20301356; 27156763; 15872203 Phenotypes for gene: AVPR2 were set to Nephrogenic syndrome of inappropriate antidiuresis 300539; Diabetes insipidus, nephrogenic 304800 |
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| Renal Tubulopathies and related disorders v0.4 | AMMECR1 |
Zornitza Stark gene: AMMECR1 was added gene: AMMECR1 was added to Renal Tubulopathies and related disorders. Sources: Expert Review,Expert Review Green Mode of inheritance for gene: AMMECR1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: AMMECR1 were set to 28089922; 27811305; 29193635 Phenotypes for gene: AMMECR1 were set to Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, MIM# 300990 |
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| Renal Tubulopathies and related disorders v0.4 | ALPL |
Zornitza Stark gene: ALPL was added gene: ALPL was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green Mode of inheritance for gene: ALPL was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: ALPL were set to 23688511; 19500388 Phenotypes for gene: ALPL were set to Hypophosphatasia, childhood, OMIM #241510; Odontohypophosphatasia, OMIM #146300; Hypophosphatasia, adult, OMIM # 146300; Hypophosphatasia, infantile, OMIM #241500 |
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