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| Proteinuric renal disease v2.67 | AMN | Eleanor Williams Phenotypes for gene: AMN were changed from Megaloblastic anemia-1, Norwegian type, 261100; (originally on the Imerslund-Grasbeck syndrome gene panel) to Megaloblastic anemia-1, Norwegian type, OMIM:261100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.66 | AMN | Eleanor Williams Tag for-review was removed from gene: AMN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.66 | AMN | Eleanor Williams commented on gene: AMN: The rating of this gene has been updated following NHS Genomic Medicine Service approval. The reviewers note that a homozygous splice variant in patient with Imerslund-Grasbeck syndrome has been reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.65 | AMN |
Eleanor Williams Source Expert Review Green was added to AMN. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Proteinuric renal disease v2.27 | AMN | Catherine Snow Classified gene: AMN as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.27 | AMN | Catherine Snow Added comment: Comment on list classification: Changed rating to Amber to reflect NHS signed-off rating, will be examined at next panel review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.27 | AMN | Catherine Snow Gene: amn has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.26 | AMN | Eleanor Williams Tag for-review tag was added to gene: AMN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.16 | AMN | Eleanor Williams Classified gene: AMN as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.16 | AMN | Eleanor Williams Added comment: Comment on list classification: Changing rating from amber to green following expert review stating that proteinuria is a well known presenting feature of IMERSLUND-GRASBECK SYNDROME. At least 3 cases with variants in AMN and proteinuria are reported in the literature. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.16 | AMN | Eleanor Williams Gene: amn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.15 | AMN |
Eleanor Williams commented on gene: AMN: Associated with Megaloblastic anemia-1, Norwegian type #261100 (AR) in OMIM which is also known as IMERSLUND-GRASBECK SYNDROME (IGS). PMID: 30691194 - Pacitto et al 2019 - describe a case of IGS with urinary tract infection and mild but persistent proteinuria at onset in an 11-month-old female child. The patient was found to be compound heterzygous for a novel intronic variant c.513+5G>A thought to affect a donor splice site, and the known pathogenetic variant c.1006+34_1007-31del. Parents each had one of the variants. PMID: 26040326 - Montgomery et al 2015 - 2 half sisters with IGS and compound heterzygous variants in AMN are reported (c.35delA, p.Gln12Argfs*5) and (c.206 T > A, p.Met69Lys). Both presented with sub-nephrotic range proteinuria. PMID: 22631584 - Densupsoontorn et al 2012 - report a Thai boy with IGS in whom a deleterious mutation in AMN was confirmed (homozygous c.663G>A; W221X). Persistent proteinuria was reported. Note - not all patients are described as presenting with proteinuria e.g. PMID: 14593474 (Molecular cause of IGS unknown in this case). |
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| Proteinuric renal disease v2.0 | AMN | Zornitza Stark reviewed gene: AMN: Rating: GREEN; Mode of pathogenicity: None; Publications: 30691194, 26040326; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.217 | AMN | Eleanor Williams Classified gene: AMN as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.217 | AMN | Eleanor Williams Added comment: Comment on list classification: Changing rating from green to amber until a review of the degree of proteinuria in patients with Imerslund-Grasbeck syndrome has been done. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.217 | AMN | Eleanor Williams Gene: amn has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.134 | AMN | Eleanor Williams Publications for gene: AMN were set to 12590260 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.16 | AMN | Eleanor Williams reviewed gene: AMN: Rating: AMBER; Mode of pathogenicity: ; Publications: PMID: 26040326; Phenotypes: Megaloblastic anemia-1, Norwegian type #261100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.15 | AMN |
Eleanor Williams Source NHS GMS was added to AMN. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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