Intestinal failure or congenital diarrhoea

Gene: MYO5B

This gene has been confirmed for this panel by the NHS Genomic Medicine Service and should be rated green.

Created: 8 Mar 2022, 11:44 a.m. | Last Modified: 8 Mar 2022, 11:44 a.m.

Panel Version: 1.48

Green List (high evidence)

PMID:29266534 summarises 62 unique 'mutations' in MYO5B (although at least one of those described has an allele frequency in ExAC of 0.3420, and thus is more likely to represent a polymorphism than a pathogenic variant). PMID: 24014347 reports a database of pathogenic variants, containing 41 variants at the time of publication. These 41 variants are included in the 62 reviewed in PMID:29266534. 15 of the 41 variants are apparently monoallelic, however the text suggests a digenic mechanism to account for this finding, rather than dominant inheritance. PMID:29266534 also reports functional evidence from cell studies and animal models that indicates that loss of function of MYO5B is associated with microvillus dysfunction and features of microvillus inclusion disease.

Created: 14 Jan 2019, 7:24 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microvillus inclusion disease

Publications

• PMID: 24014347
• 29266534

Green List (high evidence)

Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.

Created: 24 Jan 2019, 4:36 p.m.

Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: MYO5B; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given

Created: 8 Jan 2019, 10:52 a.m.