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Prepair 1000+

Gene: MYO5B

Green List (high evidence)

MYO5B (myosin VB)
EnsemblGeneIds (GRCh38): ENSG00000167306
EnsemblGeneIds (GRCh37): ENSG00000167306
OMIM: 606540, Gene2Phenotype
MYO5B is in 6 panels

1 review

Lisa Norbart (Victorian Clinical Genetics Services)

Green List (high evidence)

Progressive familial intrahepatic cholestasis-10 (PFIC10) is an autosomal recessive liver disorder characterized by the onset of symptoms in the first months or years of life. Features include jaundice, pruritis, and hepatomegaly associated with increased serum bilirubin and bile acids. Liver transaminases may be variably increased, but gamma-glutamyltransferase is normal. Liver biopsy shows hepatocellular and canalicular cholestasis with giant cell changes.

Although rare patients may have episodes of diarrhea and even show endoscopic features of microvillus inclusion disease (MVID), this tends to be transient and cholestasis dominates the clinical picture

MVID is characterized by onset of intractable life-threatening watery diarrhea during infancy. Two forms are recognized: early-onset MVID with diarrhea beginning in the neonatal period, and late-onset with first symptoms appearing after 3 or 4 months of life.

Well established gene-disease association.
Created: 30 Jan 2025, 9:24 p.m. | Last Modified: 30 Jan 2025, 9:24 p.m.
Panel Version: 1.1367

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cholestasis, progressive familial intrahepatic, 10, MIM#619868; Diarrhea 2, with microvillus atrophy, with or without cholestasis, MIM#251850

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cholestasis, progressive familial intrahepatic, 10, MIM#619868
  • Diarrhea 2, with microvillus atrophy, with or without cholestasis, MIM#251850
OMIM
606540
Clinvar variants
Variants in MYO5B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jan 2025, 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).

30 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MYO5B were changed from Microvillus inclusion disease, 251850 (3) to Cholestasis, progressive familial intrahepatic, 10, MIM#619868; Diarrhea 2, with microvillus atrophy, with or without cholestasis, MIM#251850

30 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MYO5B were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Microvillus inclusion disease, 251850 (3) for gene: MYO5B

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MYO5B was added gene: MYO5B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MYO5B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MYO5B were set to Microvillus inclusion disease, 251850 (3)