Gastrointestinal epithelial barrier disorders
Gene: MYO5BComment 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. 25/07/2018Created: 25 Jul 2018, 4:21 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microvillus inclusion disease 251850
Phenotypes for gene: MYO5B were changed from Microvillus inclusion disease 251850; Microvillus inclusion disease to Diarrhea 2, with microvillus atrophy, OMIM:251850
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
Gene: myo5b has been classified as Green List (High Evidence).
Phenotypes for gene MYO5B were set to Microvillus inclusion disease 251850, Microvillus inclusion disease
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
MYO5B was created by sleigh