Fetal anomalies
Gene: MYO5B

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

1 review

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MYO5B gene rating from Green to Red.
Created: 24 Mar 2019, 4:30 p.m.

DDG2P rating in original PAGE list: Confirmed for MICROVILLUS INCLUSION DISEASE
Created: 11 Dec 2018, 9:05 a.m.

Created: 11 Dec 2018, 9:05 a.m.

Panel version: 0.134

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
PAGE DD-Gene2Phenotype

Phenotypes

Diarrhea 2, with microvillus atrophy, OMIM:251850

OMIM

606540

Clinvar variants

Variants in MYO5B

Penetrance

None

Panels with this gene

History Filter Activity

6 Jan 2022, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: MYO5B were changed from MICROVILLUS INCLUSION DISEASE to Diarrhea 2, with microvillus atrophy, OMIM:251850

24 Mar 2019, Gel status: 1

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Red was added to MYO5B. Rating Changed from Green List (high evidence) to Red List (low evidence)

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: MYO5B was added gene: MYO5B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MYO5B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MYO5B were set to MICROVILLUS INCLUSION DISEASE

Fetal anomalies Gene: MYO5B