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| Renal tubulopathies v1.136 | MAGED2 | Eleanor Williams Classified gene: MAGED2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.136 | MAGED2 | Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green as more than 3 cases have been reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.136 | MAGED2 | Eleanor Williams Gene: maged2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.135 | MAGED2 | Eleanor Williams Added comment: Comment on mode of inheritance: Note - no cases reported in females to date. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.135 | MAGED2 | Eleanor Williams Mode of inheritance for gene: MAGED2 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.134 | MAGED2 |
Eleanor Williams changed review comment from: Associated with Bartter syndrome, type 5, antenatal, transient #300971 in OMIM. Laghmani et al. (2016) - identified variants in MAGED2 in 13 infants from 9 families who had transient antenatal Bartter's syndrome. All affected infants were male. They observed prominent tubular expression of MAGE-D2 in the human fetal renal cortex. In total, seven truncating mutations (two nonsense, two frameshift, and three splice-site mutations) and two nontruncating mutations (one missense and one in-frame deletion) were identified.; to: Associated with Bartter syndrome, type 5, antenatal, transient #300971 in OMIM. PMID: 27120771 - Laghmani et al. (2016) - identified variants in MAGED2 in 13 infants from 9 families who had transient antenatal Bartter's syndrome. All affected infants were male. They observed prominent tubular expression of MAGE-D2 in the human fetal renal cortex. In total, seven truncating mutations (two nonsense, two frameshift, and three splice-site mutations) and two nontruncating mutations (one missense and one in-frame deletion) were identified. |
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| Renal tubulopathies v1.82 | MAGED2 |
Eleanor Williams commented on gene: MAGED2: Associated with Bartter syndrome, type 5, antenatal, transient #300971 in OMIM. Laghmani et al. (2016) - identified variants in MAGED2 in 13 infants from 9 families who had transient antenatal Bartter's syndrome. All affected infants were male. They observed prominent tubular expression of MAGE-D2 in the human fetal renal cortex. In total, seven truncating mutations (two nonsense, two frameshift, and three splice-site mutations) and two nontruncating mutations (one missense and one in-frame deletion) were identified. |
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| Renal tubulopathies v1.77 | MAGED2 | Eleanor Williams Phenotypes for gene: MAGED2 were changed from to Bartter syndrome, type 5, antenatal, transient, 300971 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.76 | MAGED2 | Eleanor Williams Publications for gene: MAGED2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.16 | MAGED2 | Eleanor Williams reviewed gene: MAGED2: Rating: GREEN; Mode of pathogenicity: ; Publications: Laghmani et al 2016 N Eng J Med 374: 1853-1863. PMID: 27120771; Phenotypes: Bartter syndrome, type 5, antenatal, transient, MIM 300971; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.15 | MAGED2 |
Eleanor Williams gene: MAGED2 was added gene: MAGED2 was added to Renal tubulopathies. Sources: NHS GMS Mode of inheritance for gene: MAGED2 was set to |
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