KIF3B:Ensemblv90

kinesin family member 3B
OMIM: 603754, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber KIF3B in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.96

1 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 1.3802

2 reviews 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 Fetal anomalies


Version 1.482

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

Amber KIF3B in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

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