KITLG

KIT ligand
OMIM: 184745, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green KITLG in Neurofibromatosis Type 1

Level 3: Muscle and nerve
Level 2: Tumour syndromes
Version 1.33

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hyperpigmentation with or without hypopigmentation, 145250
Green KITLG in Pigmentary skin disorders


Level 2: Dermatology
Version 4.13
Latest signed off version: v4.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Hyperpigmentation with or without hypopigmentation, OMIM:145250
  • Progressive hyper-and hypopigmentation
  • Blaschko-linear hypopigmentation
  • FPHH
Amber KITLG in Mosaic skin disorders - deep sequencing


Level 2: Dermatology
Version 3.27
Latest signed off version: v3.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Linear and whorled nevoid hypermelanosis (LWNH)
  • Hyperpigmentation with or without hypopigmentation, OMIM:145250
Tags
  • watchlist
Red KITLG in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • WAARDENBURG SYNDROME TYPE 2
    Amber KITLG in Monogenic hearing loss


    Level 2: Audiology
    Version 5.57
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Expert
    Phenotypes
    • Deafness, autosomal dominant 69, unilateral or asymmetric 616697