Activity
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27 actions
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| Mosaic skin disorders - deep sequencing v3.25 | MVK | Ida Ertmanska Tag Q4_25_promote_green tag was added to gene: MVK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v3.25 | MVK | Ida Ertmanska edited their review of gene: MVK: Added comment: Comment on list classification: There are at least 9 unrelated families reported in literature with porokeratosis / disseminated superficial actinic porokeratosis (DSAP), with heterozygous germline mutations in MVK, with confirmed postnatal second-hit mosaic MVK mutation in 2 cases. Other genes in the pathway have been implicated in porokeratosis. Based on available evidence, this gene should be promoted to Green for Mosaic skin disorders - deep sequencing.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v3.25 | MVK | Ida Ertmanska Phenotypes for gene: MVK were changed from Porokeratosis 3, multiple types, OMIM:175900 to Porokeratosis 3, multiple types, OMIM:175900; porokeratosis 3, disseminated superficial actinic type, MONDO:0008293 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v3.24 | MVK | Ida Ertmanska Publications for gene: MVK were set to 24781643 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v3.23 | MVK | Ida Ertmanska Classified gene: MVK as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v3.23 | MVK | Ida Ertmanska Gene: mvk has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v3.22 | MVK | Ida Ertmanska Tag curated_removed was removed from gene: MVK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v3.22 | MVK | Ida Ertmanska reviewed gene: MVK: Rating: AMBER; Mode of pathogenicity: None; Publications: 22983302, 26794421, 31207227, 31753123, 39386107; Phenotypes: Porokeratosis 3, multiple types, OMIM:175900, porokeratosis 3, disseminated superficial actinic type, MONDO:0008293; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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). |
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| 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 v1.19 | MVK | Arina Puzriakova Phenotypes for gene: MVK were changed from Actinic porokeratosis; porokeratosis of Mibelli to Porokeratosis 3, multiple types, OMIM:175900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v1.5 | MVK | Arina Puzriakova Tag curated_removed tag was added to gene: MVK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v0.16 | MVK | Tom Cullup reviewed gene: MVK: Rating: RED; Mode of pathogenicity: ; Publications: 24781643; Phenotypes: Actinic porokeratosis, porokeratosis of Mibelli (175900); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v0.15 | MVK |
Catherine Snow Source Expert Review Removed was added to MVK. Publications for gene MVK were changed from to 24781643 Rating Changed from Green List (high evidence) to No List (delete) |
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| 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 |
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| Mosaic skin disorders - deep sequencing v0.7 | MVK | Rebecca Foulger Source London North GLH was added to MVK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v0.4 | MVK | Rebecca Foulger reviewed gene: MVK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v0.3 | MVK |
Rebecca Foulger gene: MVK was added gene: MVK was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: MVK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MVK were set to Actinic porokeratosis; porokeratosis of Mibelli |
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