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| Proteinuric renal disease v1.35 | MAGI2 | Eleanor Williams Phenotypes for gene: MAGI2 were changed from to Nephrotic syndrome, type 15 617609 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.34 | MAGI2 | Eleanor Williams Publications for gene: MAGI2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.33 | MAGI2 | Eleanor Williams Mode of inheritance for gene: MAGI2 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.32 | MAGI2 | Eleanor Williams Classified gene: MAGI2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.32 | MAGI2 | Eleanor Williams Added comment: Comment on list classification: Rating green as there are 4 cases reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.32 | MAGI2 | Eleanor Williams Gene: magi2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.31 | MAGI2 | Eleanor Williams commented on gene: MAGI2: Following discussion with some members of the GMS Renal Specialist Test group on 2019-03-22 it was agreed that although the reported cases have slightly different phenotypes, these are sufficiently similar to have the same pathophysiological basis. Bristol also have some unpublished cases. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.31 | MAGI2 |
Eleanor Williams edited their review of gene: MAGI2: Added comment: Associated with Nephrotic syndrome, type 15 (617609) in OMIM. PMID: 29773874 - Ashraf et al 2018 - identified homozygous truncating mutations in the MAGI2 gene (p.Gly39* and p.Tyr746*) in two individuals from unrelated families with SRNS and neurologic impairment. PMID: 27932480 - Bierzynska et al 2017 - detected two unique frameshift mutations and one duplication in three patients (two families); Two siblings (175 and 175S) shared the same homozygous frameshift deletion c.3998delG:p.(Gly1333Alafs*141). The patient with the sporadic case (180) exhibited compound heterozygosity: a deletion (paternal) resulting in a premature stop codon c.64_71delAGGAACCC:p.(Arg22Glyfs*7) together with a duplication (maternal) c.3526_3533dupCTGGCAGA:p.(Glu1178Aspfs*9). All three variants were absent in the ExAC database.; Changed publications: PMID: 29773874, PMID: 27932480 |
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| Proteinuric renal disease v1.16 | MAGI2 | Eleanor Williams reviewed gene: MAGI2: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 29773874, PMID: 27932480; Phenotypes: Nephrotic syndrome, type 15 # 617609; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.15 | MAGI2 |
Eleanor Williams gene: MAGI2 was added gene: MAGI2 was added to Proteinuric renal disease. Sources: NHS GMS Mode of inheritance for gene: MAGI2 was set to |
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