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| Mosaic skin disorders - deep sequencing v2.34 | KITLG | Arina Puzriakova 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v2.33 | KITLG | Arina Puzriakova Publications for gene: KITLG were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v2.32 | KITLG | Arina Puzriakova Classified gene: KITLG as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v2.32 | KITLG |
Arina Puzriakova Added comment: 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). |
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| Mosaic skin disorders - deep sequencing v2.32 | KITLG | Arina Puzriakova Gene: kitlg has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v2.31 | KITLG |
Arina Puzriakova Tag curated_removed was removed from gene: KITLG. Tag watchlist tag was added to gene: KITLG. |
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| Mosaic skin disorders - deep sequencing v2.1 | KITLG | Tom Cullup edited their review of gene: KITLG: Added comment: 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).; Changed rating: GREEN; Changed publications to: 28257793; Changed phenotypes to: Linear and whorled nevoid hypermelanosis (LWNH), familial progressive hyperpigmentation with or without hypopigmentation (FPHH)(MIM 145250) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v1.5 | KITLG | Arina Puzriakova Tag curated_removed tag was added to gene: KITLG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v0.16 | KITLG | Tom Cullup reviewed gene: KITLG: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Progressive hyper- and hypopigmentation, Blaschko-linear hypopigmentation; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v0.15 | KITLG |
Catherine Snow Source Expert Review Removed was added to KITLG. Rating Changed from Green List (high evidence) to No List (delete) |
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| Mosaic skin disorders - deep sequencing v0.7 | KITLG | Rebecca Foulger Source London North GLH was added to KITLG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v0.4 | KITLG | Rebecca Foulger reviewed gene: KITLG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v0.3 | KITLG |
Rebecca Foulger 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 |
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