Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: MVKComment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.Created: 14 Oct 2020, 1:34 p.m. | Last Modified: 14 Oct 2020, 1:34 p.m.
Panel Version: 2.281
The following PubMed IDs were added to entity MVK: 22038276;21708801;19011501. These publications have been associated with OMIM phenotype MIM#260920, which is listed for this entity, by the autoinflammation subgroup of the Human Phenotype Ontology Immune Mediated Disorders Consortium (https://hpo-immune-mediated-disorders.groups.io/g/update) in August 2020.Created: 13 Oct 2020, 9:36 a.m. | Last Modified: 13 Oct 2020, 9:36 a.m.
Panel Version: 2.208
Publications
agree with green geneCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
YES- this is covered on our targeted exomeCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Comment on list classification: Associated with phenotype in OMIM and not in Gen2Phen. At least 8 variants identified in numerous unrelated cases.Created: 2 May 2018, 9:33 a.m.
Comment on phenotypes: Variants also associated with Porokeratosis 3, multiple types 175900 (autosomal dominant)Created: 2 May 2018, 9:28 a.m.
Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): MVK .PanelApp HGNC gene symbol check: MVK . IUIS Disease: Mevalonate kinase deficiency (Hyper IgD syndrome) . IUIS Inheritance: AR .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: Somatic and hemaotpoietic. IUIS Associated features: Periodic fever and leukocytosis with high IgD levels. IUIS Major category: Autoinflammatory Disorders. IUIS Subcategory: Defects Affecting the InflammasomeCreated: 2 Jul 2018, 10:35 a.m.
Comment on phenotypes: added back in esidCreated: 2 May 2018, 10:39 a.m.
This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list(s) GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.Created: 20 Apr 2018, 12:25 p.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: MVK, PanelApp HGNC gene symbol check: MVK, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Autoinflammatory disorders / Familial periodic fever / Hyper IgD syndrome (MVK)Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: MVK, GRID_Gene_Symbol: MVK, GRID_Transcript_ENS_Community submitted: ENST00000228510, GRID_Transcript_RefSeq: NM_000431.2, GRID_Transcript_ENS_used_on_Production: ENST00000228510Created: 17 Apr 2018, 12:12 p.m.
Phenotypes for gene: MVK were changed from Hyper-IgD syndrome 260920; Mevalonic aciduria 610377; Hyper IgD syndrome (MVK); Periodic fever and leukocytosis with high IgD levels; Autoinflammatory Disorders to Hyper-IgD syndrome, OMIM:260920; Mevalonic aciduria, OMIM:610377; Periodic fever and leukocytosis with high IgD levels; Autoinflammatory Disorders
Gene: mvk has been classified as Green List (High Evidence).
Source Other was added to MVK. Publications for gene MVK were updated from 10369261; 16435210 to 19011501; 16435210; 22038276; 21708801; 10369261 Rating Changed from Green List (high evidence) to Red List (low evidence)
Source NHS GMS was added to MVK.
Source North West GLH was added to MVK.
Source London North GLH was added to MVK.
2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.
Phenotypes for gene MVK were set to Hyper-IgD syndrome 260920, Mevalonic aciduria 610377, Hyper IgD syndrome (MVK), Periodic fever and leukocytosis with high IgD levels, Autoinflammatory Disorders
IUIS Classification February 2018 was added to MVK. Panel: Primary immunodeficiency disorders
Victorian Clinical Genetics Services was added to MVK. Panel: Primary immunodeficiency disorders
Gene: mvk has been classified as Green List (High Evidence).
Phenotypes for MVK were set to Hyper-IgD syndrome 260920; Mevalonic aciduria 610377; Hyper IgD syndrome (MVK)
This gene has been classified as Green List (High Evidence).
Publications for MVK were set to 10369261; 16435210
This gene has been classified as Green List (High Evidence).
Phenotypes for MVK were set to Hyper-IgD syndrome 260920; Mevalonic aciduria 610377
Expert Review Amber was added to MVK. Panel: Primary immunodeficiency disorders
ESID Registry 20171117 was added to MVK. Panel: Primary immunodeficiency disorders Phenotypes for gene MVK were set to Hyper-IgD syndrome, Hyper IgD syndrome (MVK)
Phenotypes for gene MVK were set to Hyper-IgD syndrome
MVK was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0
MVK was created by Louise Daugherty