KITLG

KIT ligand
OMIM: 184745, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green KITLG in Neurofibromatosis Type 1 Level 3: Muscle and nerve Level 2: Tumour syndromes Version 1.32	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 Version 3.11 Latest signed off version: v3.0 (22 Mar 2023)	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 Version 2.47 Latest signed off version: v2.0 (30 Nov 2022)	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 3.87 Latest signed off version: v3.1 (22 Mar 2023) 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 3: Non-syndromic hearing loss Level 2: Hearing and ear disorders Version 4.38 Latest signed off version: v4.0 (22 Mar 2023) 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