MYO5B

myosin VB
OMIM: 606540, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green MYO5B in Cholestasis


Level 2: Gastroenterological disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Microvillus inclusion disease, MIM#251850
  • Cholestasis, progressive familial intrahepatic, 10, MIM# 619868

Green MYO5B in Congenital Diarrhoea


Level 2: Gastroenterological disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Microvillus inclusion disease, MIM# 251850

Green MYO5B in Mendeliome


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Microvillus inclusion disease, MIM# 251850
  • Cholestasis, progressive familial intrahepatic, 10, MIM# 619868

Green MYO5B in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microvillus inclusion disease, 251850 (3)

Green MYO5B in Prepair 1000+


Level 2: Screening
Version 3.0

1 review 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

Green MYO5B in Prepair 500+


Level 2: Screening
Version 3.0

1 review 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