Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: MYO5BAfter NHS Genomic Medicine Service consideration, the rating of this gene has not been changed - agreed to keep as Green.Created: 4 Mar 2022, 10:17 a.m. | Last Modified: 4 Mar 2022, 10:17 a.m.
Panel Version: 2.529
In agreement with Helen Brittain (Genomics England Clinical Team), added 'for-review' tag to highlight Red review from Zornitza (lack of published information) vs multiple Green GLH reviews.Created: 11 May 2020, 8:19 a.m. | Last Modified: 18 May 2020, 8:24 a.m.
Panel Version: 2.168
Cannot find association with immunological phenotype.Created: 11 Apr 2020, 4:18 a.m. | Last Modified: 11 Apr 2020, 4:18 a.m.
Panel Version: 2.51
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microvillus inclusion disease, MIM# 251850
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 relevant phenotypes in OMIM and as confirmed Gen2Phen gene. At least 6 variants reported in 6 unrelated cases.Created: 2 May 2018, 10:46 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
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.
Tag for-review was removed from gene: MYO5B.
Phenotypes for gene: MYO5B were changed from Microvillus inclusion disease 251850 to Diarrhea 2, with microvillus atrophy, OMIM:251850
Tag for-review tag was added to gene: MYO5B.
Source NHS GMS was added to MYO5B.
Source North West GLH was added to MYO5B.
Source London North GLH was added to MYO5B.
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.
Gene: myo5b has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for MYO5B were set to 18724368; 19006234
Phenotypes for MYO5B were set to Microvillus inclusion disease 251850
Expert Review Amber was added to MYO5B. Panel: Primary immunodeficiency disorders
MYO5B Source: GOSH PID 20171170 was removed from gene: MYO5B
GOSH PID v.8.0 was added to MYO5B. Panel: Primary immunodeficiency disorders
MYO5B was added to Primary immunodeficiency disorders panel. Sources: GOSH PID 20171170
MYO5B was created by Louise Daugherty