KIF3B

kinesin family member 3B
OMIM: 603754, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber KIF3B in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.54

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • hepatic fibrosis
  • retinitis pigmentosa
  • postaxial polydactyly
  • Retinitis pigmentosa 89, MIM#618955

Amber KIF3B in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • hepatic fibrosis
  • retinitis pigmentosa
  • postaxial polydactyly
  • Retinitis pigmentosa 89, MIM#618955