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Renal tubulopathies v1.116 | FXYD2 | Eleanor Williams Classified gene: FXYD2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal tubulopathies v1.116 | FXYD2 | Eleanor Williams Added comment: Comment on list classification: Changing rating from red to amber. 3 cases reported by all with the same variant which is likely a founder effect. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal tubulopathies v1.116 | FXYD2 | Eleanor Williams Gene: fxyd2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal tubulopathies v1.115 | FXYD2 |
Eleanor Williams changed review comment from: Associated with Hypomagnesemia 2, renal #154020 in OMIM. PMID: 11062458 - Meij et al 2000 - Identified a heterozygous mutation, 123G→A in FXYD2 in a large Dutch family with dominant hypomagnesaemia which cosegregated with the disorder. The mutation causes the substitution of the conserved glycine 41 within the putative transmembrane domain by arginine. PMID: 2576584 - de Baaij et al 2015 - two families (Dutch and Belgian) with hypomagnesaemia and hypocalciuria were screened for mutations in the FXYD2 gene. The same mutation as reported before was found in these families, c.115G>A, p.Gly41Arg, and haplotype analysis revealed an overlapping haplotype in all families, suggesting a founder effect. 3 cases but likely linked by common ancestor as same variant found in all three.; to: Associated with Hypomagnesemia 2, renal #154020 in OMIM. PMID: 11062458 - Meij et al 2000 - Identified a heterozygous mutation, 123G→A in FXYD2 in a large Dutch family with dominant hypomagnesaemia which cosegregated with the disorder. The mutation causes the substitution of the conserved glycine 41 within the putative transmembrane domain by arginine. PMID: 25765846 - de Baaij et al 2015 - two families (Dutch and Belgian) with hypomagnesaemia and hypocalciuria were screened for mutations in the FXYD2 gene. The same mutation as reported before was found in these families, c.115G>A, p.Gly41Arg, and haplotype analysis revealed an overlapping haplotype in all families, suggesting a founder effect. 3 cases but likely linked by common ancestor as same variant found in all three. |
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Renal tubulopathies v1.115 | FXYD2 | Eleanor Williams Publications for gene: FXYD2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal tubulopathies v1.114 | FXYD2 | Eleanor Williams Mode of inheritance for gene: FXYD2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal tubulopathies v1.82 | FXYD2 |
Eleanor Williams commented on gene: FXYD2: Associated with Hypomagnesemia 2, renal #154020 in OMIM. PMID: 11062458 - Meij et al 2000 - Identified a heterozygous mutation, 123G→A in FXYD2 in a large Dutch family with dominant hypomagnesaemia which cosegregated with the disorder. The mutation causes the substitution of the conserved glycine 41 within the putative transmembrane domain by arginine. PMID: 2576584 - de Baaij et al 2015 - two families (Dutch and Belgian) with hypomagnesaemia and hypocalciuria were screened for mutations in the FXYD2 gene. The same mutation as reported before was found in these families, c.115G>A, p.Gly41Arg, and haplotype analysis revealed an overlapping haplotype in all families, suggesting a founder effect. 3 cases but likely linked by common ancestor as same variant found in all three. |
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Renal tubulopathies v1.43 | FXYD2 | Eleanor Williams Phenotypes for gene: FXYD2 were changed from to Hypomagnesemia 2, renal, 154020 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal tubulopathies v1.16 | FXYD2 | Eleanor Williams reviewed gene: FXYD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypomagnesemia 2, renal MIM 154020; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal tubulopathies v1.15 | FXYD2 |
Eleanor Williams gene: FXYD2 was added gene: FXYD2 was added to Renal tubulopathies. Sources: NHS GMS Mode of inheritance for gene: FXYD2 was set to |