KITLG

KIT ligand
OMIM: 184745, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green KITLG in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Deafness, autosomal dominant 69, unilateral or asymmetric, MIM# 616697
  • deafness
  • heterochromia iridis
  • hypopigmentation of the skin
  • hyperpigmentation of the skin
  • Waardenburg syndrome,MONDO:0018094, KITLG-related

Green KITLG in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 1.194

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Waardenburg syndrome, MONDO:0018094, KITLG-related
  • Deafness, autosomal dominant 69, unilateral or asymmetric, MIM# 616697

Amber KITLG in Deafness_Isolated


Level 2: Hearing and ear disorders
Version 1.63

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
  • Expert list
Phenotypes
  • Deafness, autosomal dominant 69, unilateral or asymmetric, MIM# 616697