Neurofibromatosis Type 1
Gene: KITLG

KITLG (KIT ligand)
EnsemblGeneIds (GRCh38): ENSG00000049130
EnsemblGeneIds (GRCh37): ENSG00000049130
OMIM: 184745, Gene2Phenotype
KITLG is in 5 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: formating amendment
Created: 11 Oct 2017, 9 a.m.

Created: 11 Oct 2017, 9 a.m.

Panel version: 1.19

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Sufficient cases. Appropriate phenotype. Missense only to date ?activating variants.
Created: 11 Oct 2017, 7:06 a.m.

Comment on mode of pathogenicity: Missense to date. Postulated increase in activity - ?activating variants
Created: 11 Oct 2017, 7:06 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Hyperpigmentation with or without hypopigmentation 145250

Created: 11 Oct 2017, 7:02 a.m.

Panel version: 1.15

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
Literature

Phenotypes

Hyperpigmentation with or without hypopigmentation, 145250

OMIM

184745

Clinvar variants

Variants in KITLG

Penetrance

Complete

Mode of Pathogenicity

Other - please provide details in the comments

Panels with this gene

History Filter Activity

11 Oct 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for KITLG were set to Hyperpigmentation with or without hypopigmentation, 145250

11 Oct 2017, Gel status: 4