Gastrointestinal epithelial barrier disorders

Gene: MYO5B

Green List (high evidence)

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

2 reviews

Olivia Niblock (Genomics England Curator)

Comment when marking as ready: This gene is being marked as ready, having been reviewed internally by the clinical team, by the curation team and by the expert reviewer. 25/07/2018
Created: 25 Jul 2018, 4:21 p.m.

Sarah Leigh (Genomics England Curator)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Microvillus inclusion disease 251850


Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Diarrhea 2, with microvillus atrophy, OMIM:251850
Clinvar variants
Variants in MYO5B
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; Microvillus inclusion disease to Diarrhea 2, with microvillus atrophy, OMIM:251850

25 Jul 2018, Gel status: 3

Panel promoted to version 1.0

Olivia Niblock (Genomics England Curator)

Panel reviews have been assessed and internal clinical team opinion has been sought on this panel, particularly to rule out incidental findings. Panel has been revised through expert review, internal review and literature research. 25/07/2018

25 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Olivia Niblock (Genomics England Curator)

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

17 Apr 2018, Gel status: 3

Set penetrance

Olivia Niblock (Genomics England Curator)

Phenotypes for gene MYO5B were set to Microvillus inclusion disease 251850, Microvillus inclusion disease

26 Jan 2017, Gel status: 3

Added New Source

Sarah Leigh (Genomics England Curator)

MYO5B was added to Gastrointestinal epithelial barrier disorderspanel. Sources: Eligibility statement prior genetic testing,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN

26 Jan 2017, Gel status: 0


Sarah Leigh (Genomics England Curator)

MYO5B was created by sleigh