Proteinuric renal disease
Gene: AMNComment on list classification: Changed rating to Amber to reflect NHS signed-off rating, will be examined at next panel review.Created: 16 Oct 2020, 8:04 a.m. | Last Modified: 16 Oct 2020, 8:04 a.m.
Panel Version: 2.27
Proteinuria is a very well described presenting feature of this condition, it is rated Green on our Australian panel.Created: 9 Jan 2020, 3:14 a.m. | Last Modified: 9 Jan 2020, 3:14 a.m.
Panel Version: 2.0
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
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.Created: 7 Mar 2022, 11:37 p.m. | Last Modified: 7 Mar 2022, 11:37 p.m.
Panel Version: 2.66
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.Created: 30 Mar 2020, 3:58 p.m. | Last Modified: 30 Mar 2020, 3:58 p.m.
Panel Version: 2.16
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).Created: 30 Mar 2020, 3:55 p.m. | Last Modified: 30 Mar 2020, 3:55 p.m.
Panel Version: 2.15
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.Created: 9 Jul 2019, 1:03 p.m. | Last Modified: 9 Jul 2019, 1:03 p.m.
Panel Version: 1.217
This gene was part of an initial gene list collated by Elizabeth Watson, North Bristol NHS Trust, February 2019 on behalf of the GMS Renal Specialist Test Group. Gene Symbol submitted: AMN; Suggested initial gene rating: amber; Evidence for inclusion: PMID: 26040326;Created: 4 Feb 2019, 10:41 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Megaloblastic anemia-1, Norwegian type #261100
Publications
Comment on list classification: Causes proteinuria as part of Imerslund-grasbeck syndrome.Created: 15 Apr 2016, 10:38 a.m.
Lack of phenotypic fitCreated: 19 Oct 2015, 1:15 p.m.
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
Tag for-review was removed from gene: AMN.
Source Expert Review Green was added to AMN. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: amn has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: AMN.
Gene: amn has been classified as Green List (High Evidence).
Gene: amn has been classified as Amber List (Moderate Evidence).
Publications for gene: AMN were set to 12590260
Source NHS GMS was added to AMN. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Publications for AMN were set to 12590260
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene AMN was set to BIALLELIC, autosomal or pseudoautosomal
AMN was added to Proteinuric renal diseasepanel. Source: Expert
AMN was added to Proteinuric renal diseasepanel. Sources: Radboud University Medical Center, Nijmegen,Expert