Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: MYO5BEnsemblGeneIds (GRCh38): ENSG00000167306
EnsemblGeneIds (GRCh37): ENSG00000167306
OMIM: 606540, Gene2Phenotype
MYO5B is in 9 panels
8 reviews
Arina Puzriakova (Genomics England Curator)
After 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
Rebecca Foulger (Genomics England curator)
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
Zornitza Stark (Australian Genomics)
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
Kimberly Gilmour (Great Ormond Street Hopsital)
agree with green geneCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Tracy Briggs (Manchester Genomic Medicine Centre)
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
Sophie Hambleton (Newcastle University)
Sarah Leigh (Genomics England Curator)
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.
Louise Daugherty (Genomics England Curator)
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.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- North West GLH
- London North GLH
- Expert Review Green
- GOSH PID v.8.0
- Phenotypes
-
- Diarrhea 2, with microvillus atrophy, OMIM:251850
- Tags
- OMIM
- 606540
- Clinvar variants
- Variants in MYO5B
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag for-review was removed from gene: MYO5B.
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: MYO5B were changed from Microvillus inclusion disease 251850 to Diarrhea 2, with microvillus atrophy, OMIM:251850
Added Tag
Rebecca Foulger (Genomics England curator)Tag for-review tag was added to gene: MYO5B.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to MYO5B.
Added New Source
Louise Daugherty (Genomics England Curator)Source North West GLH was added to MYO5B.
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GLH was added to MYO5B.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)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.
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: myo5b has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for MYO5B were set to 18724368; 19006234
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for MYO5B were set to Microvillus inclusion disease 251850
Added New Source
Louise Daugherty (Genomics England Curator)Expert Review Amber was added to MYO5B. Panel: Primary immunodeficiency disorders
Clear Sources
Louise Daugherty (Genomics England Curator)MYO5B Source: GOSH PID 20171170 was removed from gene: MYO5B
Added New Source
Louise Daugherty (Genomics England Curator)GOSH PID v.8.0 was added to MYO5B. Panel: Primary immunodeficiency disorders
Added New Source
Louise Daugherty (Genomics England Curator)MYO5B was added to Primary immunodeficiency disorders panel. Sources: GOSH PID 20171170
Created
Louise Daugherty (Genomics England Curator)MYO5B was created by Louise Daugherty