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| Renal Tubulopathies and related disorders v1.3 | SLC6A6 |
Zornitza Stark gene: SLC6A6 was added gene: SLC6A6 was added to Renal Tubulopathies and related disorders. Sources: Literature Mode of inheritance for gene: SLC6A6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SLC6A6 were set to 35115415; 21170874; 32660969 Phenotypes for gene: SLC6A6 were set to Primary hyperoxaluria, MONDO:0002474, SLC26A6-related Review for gene: SLC6A6 was set to RED Added comment: Cornière et al. 2022 (PMID: 35115415) identified a single family with a heterozygous missense VUS (c.1519C>T/p.R507W) in the SLC26A6 gene. However, the variant was found in 5 out of 280 674 alleles reported in gnomAD (Europeans and South Asians). In vitro studies showed that the variant affects both SLC26A6 transport activity and membrane surface expression, in turn reducing Cl− dependant oxalate transport. Cotransfection studies indicated a dominant-negative effect on WT. Slc26a6 null mice similarly displayed hyperoxalemia and hyperoxaluria which were caused by defective intestinal back-secretion of dietary oxalate (PMID: 21170874; 32660969) Sources: Literature |
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| Renal Tubulopathies and related disorders v0.4 | TBCE |
Zornitza Stark gene: TBCE was added gene: TBCE was added to Renal Tubulopathies and related disorders. Sources: Literature,Expert Review Green Mode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBCE were set to 27666369 Phenotypes for gene: TBCE were set to Hypoparathyroidism-retardation-dysmorphism syndrome, OMIM #241410 |
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| Renal Tubulopathies and related disorders v0.4 | RET |
Zornitza Stark gene: RET was added gene: RET was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green Mode of inheritance for gene: RET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RET were set to 8099202; 7906866 Phenotypes for gene: RET were set to Multiple endocrine neoplasia IIB, MIM# 162300; Multiple endocrine neoplasia IIA, MIM# 171400 |
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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 | ATP1A1 |
Zornitza Stark gene: ATP1A1 was added gene: ATP1A1 was added to Renal Tubulopathies and related disorders. Sources: Literature,Expert Review Green Mode of inheritance for gene: ATP1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATP1A1 were set to 30388404 Phenotypes for gene: ATP1A1 were set to Charcot-Marie-Tooth disease, axonal, type 2DD, OMIM #618036; Hypomagnesemia, seizures, and mental retardation 2, OMIM #618314 |
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