Mosaic skin disorders - deep sequencing
Gene: KITLGComment 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
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
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.
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
Publications for gene: KITLG were set to
Gene: kitlg has been classified as Amber List (Moderate Evidence).
Tag curated_removed was removed from gene: KITLG. Tag watchlist tag was added to gene: KITLG.
Tag curated_removed tag was added to gene: KITLG.
Source Expert Review Removed was added to KITLG. Rating Changed from Green List (high evidence) to No List (delete)
Source London North GLH was added to KITLG.
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