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STRs in panel
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Primary immunodeficiency

Gene: MYO5B

Green List (high evidence)

MYO5B (myosin VB)
EnsemblGeneIds (GRCh38): ENSG00000167306
EnsemblGeneIds (GRCh37): ENSG00000167306
OMIM: 606540, Gene2Phenotype
MYO5B is in 10 panels

7 reviews

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)

Red List (low evidence)

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)

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

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

Sophie Hambleton (Newcastle University)

Green List (high evidence)

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)

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.

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
  • Microvillus inclusion disease 251850
Tags
age-specific-variation for-review
OMIM
606540
Clinvar variants
Variants in MYO5B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 May 2020, Gel status: 3

Added Tag

Rebecca Foulger (Genomics England curator)

Tag for-review tag was added to gene: MYO5B.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to MYO5B.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to MYO5B.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to MYO5B.

12 Jul 2018, Gel status: 3

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.

13 Jun 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: myo5b has been classified as Green List (High Evidence).

2 May 2018, Gel status: 3

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

2 May 2018, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for MYO5B were set to 18724368; 19006234

2 May 2018, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for MYO5B were set to Microvillus inclusion disease 251850

20 Apr 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Expert Review Amber was added to MYO5B. Panel: Primary immunodeficiency disorders

6 Apr 2018, Gel status: 1

Clear Sources

Louise Daugherty (Genomics England Curator)

MYO5B Source: GOSH PID 20171170 was removed from gene: MYO5B

6 Apr 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

GOSH PID v.8.0 was added to MYO5B. Panel: Primary immunodeficiency disorders

29 Mar 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

MYO5B was added to Primary immunodeficiency disorders panel. Sources: GOSH PID 20171170

29 Mar 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

MYO5B was created by Louise Daugherty