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COVID-19 research

Gene: MYO5B

Green List (high evidence)
MYO5B (myosin VB)
EnsemblGeneIds (GRCh38): ENSG00000167306
EnsemblGeneIds (GRCh37): ENSG00000167306
OMIM: 606540, Gene2Phenotype
MYO5B is in 9 panels

5 reviews

Kimberly Gilmour (Great Ormond Street Hopsital)

Green List (high evidence)

agree with green gene
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Created: 17 Sep 2019, 3:18 p.m.
Last Modified: 17 Sep 2019, 3:18 p.m.
Panel version: Imported from Primary immunodeficiency panel version 1.94

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

YES- this is covered on our targeted exome
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Created: 17 Sep 2019, 3:18 p.m.
Last Modified: 17 Sep 2019, 3:18 p.m.
Panel version: Imported from Primary immunodeficiency panel version 1.94

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Created: 11 Jun 2018, 10:01 a.m.

Panel version: Imported from Primary immunodeficiency panel version 0.818

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.
Created: 2 May 2018, 10:46 a.m.

Panel version: Imported from Primary immunodeficiency panel version 0.473

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

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.
Created: 20 Apr 2018, 12:25 p.m.

Panel version: Imported from Primary immunodeficiency panel version 1.94

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • GOSH PID v.8.0
  • NHS GMS
  • North West GLH
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • Expert Review Green
  • GOSH PID v.8.0
Phenotypes
  • Diarrhea 2, with microvillus atrophy, OMIM:251850
OMIM
606540
Clinvar variants
Variants in MYO5B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Jan 2022, Gel status: 3

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

1 Apr 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: MYO5B was added gene: MYO5B was added to Viral susceptibility. Sources: Expert Review Green,North West GLH,NHS GMS,GOSH PID v.8.0,London North GLH Mode of inheritance for gene: MYO5B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYO5B were set to 19006234; 18724368 Phenotypes for gene: MYO5B were set to Microvillus inclusion disease 251850