Intestinal failure or congenital diarrhoea
Gene: MYO5BThis 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
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
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 givenCreated: 8 Jan 2019, 10:52 a.m.
Phenotypes for gene: MYO5B were changed from Microvillus inclusion disease, OMIM:251850 to Diarrhea 2, with microvillus atrophy, OMIM:251850
Phenotypes for gene: MYO5B were changed from Microvillus inclusion disease, 251850 to Microvillus inclusion disease, OMIM:251850
Gene: myo5b has been classified as Green List (High Evidence).
Phenotypes for gene: MYO5B were changed from to Microvillus inclusion disease, 251850
Mode of inheritance for gene: MYO5B was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYO5B were set to
Source Expert Review Green was added to MYO5B. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: MYO5B was added gene: MYO5B was added to Intestinal failure. Sources: NHS GMS Mode of inheritance for gene: MYO5B was set to