Cholestasis
Gene: MYO5B
MYO5B (myosin VB)
EnsemblGeneIds (GRCh38): ENSG00000167306
EnsemblGeneIds (GRCh37): ENSG00000167306
OMIM: 606540, Gene2Phenotype
MYO5B is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000167306
EnsemblGeneIds (GRCh37): ENSG00000167306
OMIM: 606540, Gene2Phenotype
MYO5B is in 6 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Cholestasis has been reported in association with microvillus inclusion disease, but PMID: 28027573 and PMID: 27532546 also report cholestasis with normal or low γ‐glutamyltransferase activity, without diarrhoea, in a total of 13 unrelated individuals with biallelic variants in MYO5B. The youngest proband presented at 2 days of age, although in most cases the onset of symptoms was at more than one month of age.
Sources: Expert listCreated: 9 Aug 2020, 6:36 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cholestasis; Microvillus inclusion disease, MIM#251850
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Cholestasis
- Microvillus inclusion disease, MIM#251850
- OMIM
- 606540
- Clinvar variants
- Variants in MYO5B
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
9 Aug 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: myo5b has been classified as Green List (High Evidence).
9 Aug 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: myo5b has been classified as Green List (High Evidence).
9 Aug 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: MYO5B was added gene: MYO5B was added to Cholestasis. Sources: Expert list Mode of inheritance for gene: MYO5B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYO5B were set to 28027573; 27532546 Phenotypes for gene: MYO5B were set to Cholestasis; Microvillus inclusion disease, MIM#251850 Review for gene: MYO5B was set to GREEN