Neurofibromatosis Type 1

Gene: KITLG

Green List (high evidence)

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.

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

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

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 Oct 2017, Gel status: 4

Set mode of pathogenicity

Helen Brittain (Genomics England Curator)

Mode of pathogenicity for KITLG was changed to Other - please provide details in the comments

11 Oct 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 Oct 2017, Gel status: 0

Added New Source

Helen Brittain (Genomics England Curator)

KITLG was added to Neurofibromatosis Type 1panel. Sources: Literature

11 Oct 2017, Gel status: 0

Created

Helen Brittain (Genomics England Curator)

KITLG was created by helen.brittain