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| Mendeliome v1.4668 | FXYD2 |
Sangavi Sivagnanasundram changed review comment from: Classified as MODERATE by ClinGen Tubulopathy VCEP 29/06/2023 - https://search.clinicalgenome.org/CCID:004896 - this is based of the reports of a singular variant in multiple families PMID: 40428357 - reports a Polish family (2 sibs and mother) presenting with hypercalciuria, glucosuria and mild proteinuria. The mother presented with a milder phenotype compared to the children. c.80G>A, p.(Arg27His) - Variant is present in gnomAD v4.1 with global FAF - 0.00098% (23 hets globally) Upgrade to green given a second variant that is shown to segregate in affected members of the family (siblings and mother); to: Classified as MODERATE by ClinGen Tubulopathy VCEP 29/06/2023 - https://search.clinicalgenome.org/CCID:004896 - this is based of the reports of a singular variant in multiple families PMID: 40428357 - reports a Polish family (2 sibs and mother) presenting with hypercalciuria, glucosuria and mild proteinuria. The mother presented with a milder phenotype compared to the children. c.80G>A, p.(Arg27His) - Variant is present in gnomAD v4.1 with global FAF - 0.00098% (23 hets globally) Remain as Amber given that only two variants have been reported in affected individuals and no supportive functional evidence has been reported as of yet. |
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| Mendeliome v1.4668 | FXYD2 | Sangavi Sivagnanasundram edited their review of gene: FXYD2: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4668 | FXYD2 | Sangavi Sivagnanasundram reviewed gene: FXYD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 40428357; Phenotypes: Renal hypomagnesemia 2, MONDO:0007937; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14244 | FXYD2 | Bryony Thompson Marked gene: FXYD2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14244 | FXYD2 | Bryony Thompson Gene: fxyd2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14244 | FXYD2 | Bryony Thompson Phenotypes for gene: FXYD2 were changed from to Renal hypomagnesemia 2 MONDO:0007937 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14243 | FXYD2 | Bryony Thompson Publications for gene: FXYD2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14242 | FXYD2 | Bryony Thompson Mode of pathogenicity for gene: FXYD2 was changed from to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14241 | FXYD2 | Bryony Thompson Mode of inheritance for gene: FXYD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14240 | FXYD2 | Bryony Thompson Classified gene: FXYD2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14240 | FXYD2 | Bryony Thompson Gene: fxyd2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14239 | FXYD2 | Bryony Thompson reviewed gene: FXYD2: Rating: AMBER; Mode of pathogenicity: Other; Publications: 17980699, 12763862, 18448590, 11062458, 25765846, 27014088; Phenotypes: Renal hypomagnesemia 2 MONDO:0007937; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | FXYD2 |
Zornitza Stark gene: FXYD2 was added gene: FXYD2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FXYD2 was set to Unknown |
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