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Mosaic skin disorders - deep sequencing v3.9 PMVK Ida Ertmanska Tag Q4_25_NHS_review tag was added to gene: PMVK.
Mosaic skin disorders - deep sequencing v3.9 PMVK Ida Ertmanska changed review comment from: PMID: 38360177 Polubothu et al., 2024
Patient with Inflammatory linear verrucous epidermal nevus (ILVEN) reported to carry a de novo PMVK variant c.126delG, p.R42fs (NM_006556.4: c.124del, p.Arg42Glyfs*16) - not in gnomAD v4.1.0; method: 250x WES; mosaic in blood and skin, no second variant detected in the same gene in skin.

PMID: 30942823 Atzmony et al., 2019 / PMID: 35853659 Atzmony et al., 2022
Report of 2 patients with Linear Porokeratosis. Inheritance pattern unknown.
Patient 1: 20 yo man with a germline-heterozygous PMVK c.329G>A, p.R110Q mutation in blood & affected skin. Skin showed a higher mutant allele fraction (Ref:Non-Ref read ratio was 21:15 in blood and 16:61 in tissue). Suggested somatic loss-of-heterozygosity.
Patient 2: 5 yo girl with a germline mutation PMVK c.79G>T, p.Glu27* & a somatic mutation PMVK c.379C>T, p.Gln127* (Ref:Non-Ref = 113:0 in blood, and 119:34 in tissue). Variant p.Glu27* has MAF = 0.0005930 in gnomAD v4.1.0 (Admixed American pop), no homozygotes.

This gene is NOT predicted to be LoF intolerant (pLI = 0.02, LOEUF = 0.87). PMVK is associated with AD Porokeratosis 1, multiple types MIM:175800 in OMIM (accessed 3rd Dec 2025).; to: PMID: 38360177 Polubothu et al., 2024
Patient with Inflammatory linear verrucous epidermal nevus (ILVEN) reported to carry a de novo PMVK variant c.126delG, p.R42fs (NM_006556.4: c.124del, p.Arg42Glyfs*16) - not in gnomAD v4.1.0; method: 250x WES; mosaic in blood and skin, no second variant detected in the same gene in skin.

PMID: 30942823 Atzmony et al., 2019 / PMID: 35853659 Atzmony et al., 2022
Report of 2 patients with Linear Porokeratosis - plaques distributed along the lines of Blaschko, suggesting cutaneous mosaicism. Inheritance pattern unknown.
Patient 1: 20 yo man with a germline-heterozygous PMVK c.329G>A, p.R110Q mutation in blood & affected skin. Skin showed a higher mutant allele fraction (Ref:Non-Ref read ratio was 21:15 in blood and 16:61 in tissue). Suggested somatic loss-of-heterozygosity.
Patient 2: 5 yo girl with a germline mutation PMVK c.79G>T, p.Glu27* & a somatic mutation PMVK c.379C>T, p.Gln127* (Ref:Non-Ref = 113:0 in blood, and 119:34 in tissue). Variant p.Glu27* has MAF = 0.0005930 in gnomAD v4.1.0 (Admixed American pop), no homozygotes.

This gene is NOT predicted to be LoF intolerant (pLI = 0.02, LOEUF = 0.87). PMVK is associated with AD Porokeratosis 1, multiple types MIM:175800 in OMIM (accessed 3rd Dec 2025).
Mosaic skin disorders - deep sequencing v3.9 PMVK Ida Ertmanska commented on gene: PMVK: Comment on list classification: There are 3 unrelated individuals diagnosed with linear porokeratosis / ILVEN with mosaic PMVK variants. 1 individual harboured a mosaic PMVK variant only (vPMID: 38360177), while two patients carried a germline PMVK mutation together with either a somatic PMVK variant, or evidence of loss of heterozygosity (PMID: 30942823). Based on the available evidence, this gene should be promoted to Green for Mosaic skin disorders - deep sequencing.
Mosaic skin disorders - deep sequencing v3.9 PMVK Ida Ertmanska Tag Q4_25_promote_green tag was added to gene: PMVK.
Mosaic skin disorders - deep sequencing v3.9 PMVK Ida Ertmanska Phenotypes for gene: PMVK were changed from Linear porokeratosis to inflammatory linear verrucous epidermal nevus, MONDO:0019318; Porokeratosis 1, multiple types OMIM:175800
Mosaic skin disorders - deep sequencing v3.8 PMVK Ida Ertmanska Publications for gene: PMVK were set to 30942823
Mosaic skin disorders - deep sequencing v3.7 PMVK Ida Ertmanska reviewed gene: PMVK: Rating: GREEN; Mode of pathogenicity: None; Publications: 30942823, 35853659, 38360177; Phenotypes: inflammatory linear verrucous epidermal nevus, MONDO:0019318, Porokeratosis 1, multiple types OMIM:175800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v3.1 PMVK Veronica Kinsler reviewed gene: PMVK: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38360177, PMID: 35853659; Phenotypes: Inflammatory Linear Verrucous Epidermal Naevi (ILVEN); Mode of inheritance: Other
Mosaic skin disorders - deep sequencing v0.19 PMVK Catherine Snow Classified gene: PMVK as Amber List (moderate evidence)
Mosaic skin disorders - deep sequencing v0.19 PMVK Catherine Snow Gene: pmvk has been classified as Amber List (Moderate Evidence).
Mosaic skin disorders - deep sequencing v0.16 PMVK Tom Cullup reviewed gene: PMVK: Rating: AMBER; Mode of pathogenicity: ; Publications: 30942823; Phenotypes: Linear porokeratosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.14 PMVK Catherine Snow gene: PMVK was added
gene: PMVK was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Red
Mode of inheritance for gene: PMVK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PMVK were set to 30942823
Phenotypes for gene: PMVK were set to Linear porokeratosis