Mosaic skin disorders - deep sequencing

Gene: KITLG

Amber List (moderate evidence)

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

3 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Upgrading rating from Grey (removed) to Amber. One patient has been reported with congenital linear and mottled hyperpigmentation on trunk and limbs due to a de novo postzygotic KITLG variant (p.Asp110Gly). Immunohistochemistry suggested that this variant results in increased epidermal expression of KITLG and an increased number of epidermal melanocytes (PMID: 28257793).

The germline phenotype (OMIM:145250) is more likely to be tested under R236 and as there is only one somatic case with a mosaic presentation, suggesting an Amber rating while awaiting further evidence (added 'watchlist' tag).
Created: 3 Oct 2023, 10:54 a.m. | Last Modified: 3 Oct 2023, 10:54 a.m.
Panel Version: 2.32

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Good evidence to support causation in familial progressive hyper- and hypopigmentation (FPHH) - green on pigmentary disorders panel. Less evidence to support linear and whorled nevoid hypermelanosis (LWNH) - single case in PMID 28257793, but important as differential for mosaic pigmentary disorders as no brain involvement unlike other similarly presenting disorders (therefore no brain scanning mandated following KITLG diagnosis).
Created: 3 May 2023, 3:17 p.m. | Last Modified: 3 May 2023, 3:17 p.m.
Panel Version: 2.1

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Linear and whorled nevoid hypermelanosis (LWNH); familial progressive hyperpigmentation with or without hypopigmentation (FPHH)(MIM 145250)

Publications

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: KITLG; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 31 Jan 2019, 2:50 p.m.

Details

Mode of Inheritance
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
OMIM
184745
Clinvar variants
Variants in KITLG
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Oct 2023, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: KITLG were changed from Progressive hyper- and hypopigmentation; Blaschko-linear hypopigmentation to Linear and whorled nevoid hypermelanosis (LWNH); Hyperpigmentation with or without hypopigmentation, OMIM:145250

3 Oct 2023, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: KITLG were set to

3 Oct 2023, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: kitlg has been classified as Amber List (Moderate Evidence).

3 Oct 2023, Gel status: 0

Removed Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag curated_removed was removed from gene: KITLG. Tag watchlist tag was added to gene: KITLG.

26 Feb 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag curated_removed tag was added to gene: KITLG.

5 Dec 2019, Gel status: 0

Added New Source, Status Update

Catherine Snow (Genomics England)

Source Expert Review Removed was added to KITLG. Rating Changed from Green List (high evidence) to No List (delete)

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to KITLG.

31 Jan 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: KITLG was added gene: KITLG was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: KITLG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KITLG were set to Progressive hyper- and hypopigmentation; Blaschko-linear hypopigmentation