Activity
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| Pigmentary skin disorders v4.12 | PMVK |
Ida Ertmanska Tag Q4_25_promote_green was removed from gene: PMVK. Tag curated_removed tag was added to gene: PMVK. |
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| Pigmentary skin disorders v4.12 | PMVK | Ida Ertmanska Classified gene: PMVK as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v4.12 | PMVK | Ida Ertmanska Added comment: Comment on list classification: Gene added to Rare genetic inflammatory skin disorders instead. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v4.12 | PMVK | Ida Ertmanska Gene: pmvk has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v4.11 | PMVK | Ida Ertmanska Classified gene: PMVK as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v4.11 | PMVK | Ida Ertmanska Gene: pmvk has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v4.10 | PMVK | Ida Ertmanska Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v4.8 | PMVK | Ida Ertmanska commented on gene: PMVK: Comment on list classification: There are at least 13 unrelated individuals reported in literature with germline heterozygous variants in PMVK, diagnosed with a type of porokeratosis. Porokeratosis is characterised by keratotic lesions with an atrophic center rimmed by an elevated border. Disease onset is mostly in childhood or adolescence. Based on the available evidence, PMVK should be promoted to Green for Pigmentary skin disorders. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v4.8 | PMVK |
Ida Ertmanska changed review comment from: PMID: 26202976 Zhang et al. 2015 Screened 12 isoprenoid genes in 134 Chinese probands with porokeratosis and identified PMVK mutations: 9 unrelated cases (some cases sporadic some familial). PMVK variants detected: c.1A>G, p.Met1?; c.94A>T, p.Arg32*; c.205A>G, p.Lys69Glu; c.312G>A, p.Trp104*; c.412C>T, p.Arg138*; c.550del, p.Leu184*. PMID: 27052676 Wang et al 2016 Investigated the genetic basis of Disseminated Superficial Porokeratosis (DSP) in 2 five-generation Chinese families with members affected by DSP. Identified a nonsense variation c.412C>T (p.Arg138*) in PMVK in both families through WES. PMID: 37315547 Zhang et al., 2023 Identified a novel heterozygous missense variant, c.207G>T (p. Lys69Asn) in PMVK in a Chinese pedigree with 4 individuals affected by porokeratosis. Patients presented with keratotic lesions in childhood / adolescence. Only 4 genes were sequenced: MVK, MVD, PMVK, and FDPS. PMID: 41296516 Narula et al., 2025 (online ahead of print) 20-year-old Indian man presented with persistent non-pruritic skin lesions: skin-coloured papules on the scrotum and pigmented annular plaques over the forearms, dorsum of the foot, elbows, knees, and buttocks. Heterozygous for NM_006556.4: c.412C>T (p.Arg138*) - same variant as reported in PMID: 27052676. 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: 26202976 Zhang et al. 2015 Screened 12 isoprenoid genes in 134 Chinese probands with porokeratosis and identified PMVK mutations: 9 unrelated cases (some cases sporadic some familial). PMVK variants detected: c.1A>G, p.Met1?; c.94A>T, p.Arg32*; c.205A>G, p.Lys69Glu; c.312G>A, p.Trp104*; c.412C>T, p.Arg138*; c.550del, p.Leu184*. PMID: 27052676 Wang et al 2016 Investigated the genetic basis of Disseminated Superficial Porokeratosis (DSP) in 2 five-generation Chinese families with members affected by DSP. Identified a nonsense variation c.412C>T (p.Arg138*) in PMVK in both families through WES. Age of onset: mostly between 5-10 yo. PMID: 37315547 Zhang et al., 2023 Identified a novel heterozygous missense variant, c.207G>T (p. Lys69Asn) in PMVK in a Chinese pedigree with 4 individuals affected by porokeratosis. Patients presented with keratotic lesions in childhood / adolescence. Only 4 genes were sequenced: MVK, MVD, PMVK, and FDPS. PMID: 41296516 Narula et al., 2025 (online ahead of print) 20-year-old Indian man, presented with persistent non-pruritic skin lesions since childhood: skin-coloured papules on the scrotum and pigmented annular plaques over the forearms, dorsum of the foot, elbows, knees, and buttocks. Heterozygous for NM_006556.4: c.412C>T (p.Arg138*) - same variant as reported in PMID: 27052676. 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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| Pigmentary skin disorders v4.8 | PMVK |
Ida Ertmanska changed review comment from: PMID: 26202976 Zhang et al. 2015 Screened 12 isoprenoid genes in 134 Chinese probands with porokeratosis and identified PMVK mutations: 9 unrelated families (some cases sporadic some familial). PMVK variants detected: c.1A>G, p.Met1?; c.94A>T, p.Arg32*; c.205A>G, p.Lys69Glu; c.312G>A, p.Trp104*; c.412C>T, p.Arg138*; c.550del, p.Leu184*. PMID: 27052676 Wang et al 2016 Investigated the genetic basis of Disseminated Superficial Porokeratosis (DSP) in 2 five-generation Chinese families with members affected by DSP. Identified a nonsense variation c.412C>T (p.Arg138*) in PMVK in both families through WES. PMID: 37315547 Zhang et al., 2023 Identified a novel heterozygous missense variant, c.207G>T (p. Lys69Asn) in PMVK in a Chinese pedigree with 4 individuals affected by porokeratosis. Patients presented with keratotic lesions in childhood / adolescence. Only 4 genes were sequenced: MVK, MVD, PMVK, and FDPS. PMID: 41296516 Narula et al., 2025 (online ahead of print) 20-year-old Indian man presented with persistent non-pruritic skin lesions: skin-coloured papules on the scrotum and pigmented annular plaques over the forearms, dorsum of the foot, elbows, knees, and buttocks. Heterozygous for NM_006556.4: c.412C>T (p.Arg138*) - same variant as reported in PMID: 27052676. 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: 26202976 Zhang et al. 2015 Screened 12 isoprenoid genes in 134 Chinese probands with porokeratosis and identified PMVK mutations: 9 unrelated cases (some cases sporadic some familial). PMVK variants detected: c.1A>G, p.Met1?; c.94A>T, p.Arg32*; c.205A>G, p.Lys69Glu; c.312G>A, p.Trp104*; c.412C>T, p.Arg138*; c.550del, p.Leu184*. PMID: 27052676 Wang et al 2016 Investigated the genetic basis of Disseminated Superficial Porokeratosis (DSP) in 2 five-generation Chinese families with members affected by DSP. Identified a nonsense variation c.412C>T (p.Arg138*) in PMVK in both families through WES. PMID: 37315547 Zhang et al., 2023 Identified a novel heterozygous missense variant, c.207G>T (p. Lys69Asn) in PMVK in a Chinese pedigree with 4 individuals affected by porokeratosis. Patients presented with keratotic lesions in childhood / adolescence. Only 4 genes were sequenced: MVK, MVD, PMVK, and FDPS. PMID: 41296516 Narula et al., 2025 (online ahead of print) 20-year-old Indian man presented with persistent non-pruritic skin lesions: skin-coloured papules on the scrotum and pigmented annular plaques over the forearms, dorsum of the foot, elbows, knees, and buttocks. Heterozygous for NM_006556.4: c.412C>T (p.Arg138*) - same variant as reported in PMID: 27052676. 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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| Pigmentary skin disorders v4.8 | PMVK |
Ida Ertmanska changed review comment from: PMID: 26202976 Zhang et al. 2015 Screened 12 isoprenoid genes in 134 Chinese probands with porokeratosis and identified PMVK mutations: 9 unrelated families (some cases sporadic some familial). PMVK variants detected: c.1A>G, p.Met1?; c.94A>T, p.Arg32*; c.205A>G, p.Lys69Glu; c.312G>A, p.Trp104*; c.412C>T, p.Arg138*; c.550del, p.Leu184*. PMID: 27052676 Wang et al 2016 Investigated the genetic basis of Disseminated Superficial Porokeratosis (DSP) in 2 five-generation Chinese families with members affected by DSP. Identified a nonsense variation c.412C>T (p.Arg138*) in PMVK in both families through WES. PMID: 37315547 Zhang et al., 2023 Identified a novel heterozygous missense variant, c.207G>T (p. Lys69Asn) in PMVK in a Chinese pedigree with 4 individuals affected by porokeratosis. Patients presented with keratotic lesions in childhood / adolescence. Only 4 genes were sequenced: MVK, MVD, PMVK, and FDPS. PMID: 41296516 Narula et al., 2025 (online ahead of print) 20-year-old Indian man presented with persistent non-pruritic skin lesions: skin-coloured papules on the scrotum and pigmented annular plaques over the forearms, dorsum of the foot, elbows, knees, and buttocks. Heterozygous for NM_006556.4: c.412C>T (p.Arg138*) - same variant as reported in PMID: 27052676. PMVK is associated with AD Porokeratosis 1, multiple types MIM:175800 in OMIM (accessed 3rd Dec 2025).; to: PMID: 26202976 Zhang et al. 2015 Screened 12 isoprenoid genes in 134 Chinese probands with porokeratosis and identified PMVK mutations: 9 unrelated families (some cases sporadic some familial). PMVK variants detected: c.1A>G, p.Met1?; c.94A>T, p.Arg32*; c.205A>G, p.Lys69Glu; c.312G>A, p.Trp104*; c.412C>T, p.Arg138*; c.550del, p.Leu184*. PMID: 27052676 Wang et al 2016 Investigated the genetic basis of Disseminated Superficial Porokeratosis (DSP) in 2 five-generation Chinese families with members affected by DSP. Identified a nonsense variation c.412C>T (p.Arg138*) in PMVK in both families through WES. PMID: 37315547 Zhang et al., 2023 Identified a novel heterozygous missense variant, c.207G>T (p. Lys69Asn) in PMVK in a Chinese pedigree with 4 individuals affected by porokeratosis. Patients presented with keratotic lesions in childhood / adolescence. Only 4 genes were sequenced: MVK, MVD, PMVK, and FDPS. PMID: 41296516 Narula et al., 2025 (online ahead of print) 20-year-old Indian man presented with persistent non-pruritic skin lesions: skin-coloured papules on the scrotum and pigmented annular plaques over the forearms, dorsum of the foot, elbows, knees, and buttocks. Heterozygous for NM_006556.4: c.412C>T (p.Arg138*) - same variant as reported in PMID: 27052676. 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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| Pigmentary skin disorders v4.8 | PMVK |
Ida Ertmanska changed review comment from: PMID: 26202976 Zhang et al. 2015 Screened 12 isoprenoid genes in 134 Chinese probands with porokeratosis and identified PMVK mutations: 9 unrelated families (some cases sporadic some familial). PMVK variants detected: c.1A>G, p.Met1?; c.94A>T, p.Arg32*; c.205A>G, p.Lys69Glu; c.312G>A, p.Trp104*; c.412C>T, p.Arg138*; c.550del, p.Leu184*. PMID: 27052676 Wang et al 2016 Investigated the genetic basis of Disseminated Superficial Porokeratosis (DSP) in 2 five-generation Chinese families with members affected by DSP. Identified a nonsense variation c.412C>T (p.Arg138*) in PMVK in both families through WES. PMID: 37315547 Zhang et al., 2023 Identified a novel heterozygous missense variant, c.207G>T (p. Lys69Asn) in PMVK in a Chinese pedigree with 4 individuals affected by porokeratosis. Patients presented with keratotic lesions in childhood / adolescence. Only 4 genes were sequenced: MVK, MVD, PMVK, and FDPS. PMID: 41296516 Narula et al., 2025 (online ahead of print) 20-year-old Indian man presented with persistent non-pruritic skin lesions: skin-coloured papules on the scrotum and pigmented annular plaques over the forearms, dorsum of the foot, elbows, knees, and buttocks. Heterozygous for NM_006556.4: c.412C>T (p.Arg138*) - same variant as reported in PMID: 27052676.; to: PMID: 26202976 Zhang et al. 2015 Screened 12 isoprenoid genes in 134 Chinese probands with porokeratosis and identified PMVK mutations: 9 unrelated families (some cases sporadic some familial). PMVK variants detected: c.1A>G, p.Met1?; c.94A>T, p.Arg32*; c.205A>G, p.Lys69Glu; c.312G>A, p.Trp104*; c.412C>T, p.Arg138*; c.550del, p.Leu184*. PMID: 27052676 Wang et al 2016 Investigated the genetic basis of Disseminated Superficial Porokeratosis (DSP) in 2 five-generation Chinese families with members affected by DSP. Identified a nonsense variation c.412C>T (p.Arg138*) in PMVK in both families through WES. PMID: 37315547 Zhang et al., 2023 Identified a novel heterozygous missense variant, c.207G>T (p. Lys69Asn) in PMVK in a Chinese pedigree with 4 individuals affected by porokeratosis. Patients presented with keratotic lesions in childhood / adolescence. Only 4 genes were sequenced: MVK, MVD, PMVK, and FDPS. PMID: 41296516 Narula et al., 2025 (online ahead of print) 20-year-old Indian man presented with persistent non-pruritic skin lesions: skin-coloured papules on the scrotum and pigmented annular plaques over the forearms, dorsum of the foot, elbows, knees, and buttocks. Heterozygous for NM_006556.4: c.412C>T (p.Arg138*) - same variant as reported in PMID: 27052676. PMVK is associated with AD Porokeratosis 1, multiple types MIM:175800 in OMIM (accessed 3rd Dec 2025). |
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| Pigmentary skin disorders v4.8 | PMVK | Ida Ertmanska Phenotypes for gene: PMVK were changed from Porokeratosis 1, multiple types, OMIM:175800 to Porokeratosis 1, multiple types, OMIM:175800; porokeratosis, MONDO:0006602 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v4.7 | PMVK | Ida Ertmanska Publications for gene: PMVK were set to 26202976; 27052676 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v4.6 | PMVK |
Ida Ertmanska changed review comment from: PMID: 26202976 Zhang et al. 2015 Screened 12 isoprenoid genes in 134 Chinese probands with porokeratosis and identified PMVK mutations: 9 unrelated families (some cases sporadic some familial). PMVK variants detected: c.1A>G, p.Met1?; c.94A>T, p.Arg32*; c.205A>G, p.Lys69Glu; c.312G>A, p.Trp104*; c.412C>T, p.Arg138*; c.550del, p.Leu184*. PMID: 27052676 Wang et al 2016 Investigated the genetic basis of DSP in 2 five-generation Chinese families with members diagnosed with DSP. By whole-exome sequencing, they identified a nonsense variation c.412C>T (p.Arg138*) in PMVK in both families. PMID: 37315547 Zhang et al., 2023 Identified a novel heterozygous missense variant, c.207G>T (p. Lys69Asn) in PMVK in a Chinese pedigree with 4 individuals affected by porokeratosis. Patients presented with keratotic lesions in childhood / adolescence. Only 4 genes were sequenced: MVK, MVD, PMVK, and FDPS. PMID: 41296516 Narula et al., 2025 (online ahead of print) 20-year-old Indian man presented with persistent non-pruritic skin lesions: skin-coloured papules on the scrotum and pigmented annular plaques over the forearms, dorsum of the foot, elbows, knees, and buttocks. Heterozygous for NM_006556.4: c.412C>T (p.Arg138*) - same variant as reported in PMID: 27052676.; to: PMID: 26202976 Zhang et al. 2015 Screened 12 isoprenoid genes in 134 Chinese probands with porokeratosis and identified PMVK mutations: 9 unrelated families (some cases sporadic some familial). PMVK variants detected: c.1A>G, p.Met1?; c.94A>T, p.Arg32*; c.205A>G, p.Lys69Glu; c.312G>A, p.Trp104*; c.412C>T, p.Arg138*; c.550del, p.Leu184*. PMID: 27052676 Wang et al 2016 Investigated the genetic basis of Disseminated Superficial Porokeratosis (DSP) in 2 five-generation Chinese families with members affected by DSP. Identified a nonsense variation c.412C>T (p.Arg138*) in PMVK in both families through WES. PMID: 37315547 Zhang et al., 2023 Identified a novel heterozygous missense variant, c.207G>T (p. Lys69Asn) in PMVK in a Chinese pedigree with 4 individuals affected by porokeratosis. Patients presented with keratotic lesions in childhood / adolescence. Only 4 genes were sequenced: MVK, MVD, PMVK, and FDPS. PMID: 41296516 Narula et al., 2025 (online ahead of print) 20-year-old Indian man presented with persistent non-pruritic skin lesions: skin-coloured papules on the scrotum and pigmented annular plaques over the forearms, dorsum of the foot, elbows, knees, and buttocks. Heterozygous for NM_006556.4: c.412C>T (p.Arg138*) - same variant as reported in PMID: 27052676. |
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| Pigmentary skin disorders v4.6 | PMVK |
Ida Ertmanska changed review comment from: PMID: 26202976 Zhang et al. 2015 Screened 12 isoprenoid genes in 134 Chinese probands with porokeratosis and identified PMVK mutations: 9 unrelated families (some cases sporadic some familial). PMVK variants detected: c.1A>G, p.Met1?; c.94A>T, p.Arg32*;c.205A>G, p.Lys69Glu; c.312G>A, p.Trp104*; c.412C>T, p.Arg138*; c.550del, p.Leu184*. PMID: 27052676 Wang et al 2016 Investigated the genetic basis of DSP in 2 five-generation Chinese families with members diagnosed with DSP. By whole-exome sequencing, they identified a nonsense variation c.412C>T (p.Arg138*) in PMVK in both families. PMID: 37315547 Zhang et al., 2023 Identified a novel heterozygous missense variant, c.207G>T (p. Lys69Asn) in PMVK in a Chinese pedigree with 4 individuals affected by porokeratosis. Patients presented with keratotic lesions in childhood / adolescence. Only 4 genes were sequenced: MVK, MVD, PMVK, and FDPS. PMID: 41296516 Narula et al., 2025 (online ahead of print) 20-year-old Indian man presented with persistent non-pruritic skin lesions: skin-coloured papules on the scrotum and pigmented annular plaques over the forearms, dorsum of the foot, elbows, knees, and buttocks. Heterozygous for NM_006556.4: c.412C>T (p.Arg138*) - same variant as reported in PMID: 27052676.; to: PMID: 26202976 Zhang et al. 2015 Screened 12 isoprenoid genes in 134 Chinese probands with porokeratosis and identified PMVK mutations: 9 unrelated families (some cases sporadic some familial). PMVK variants detected: c.1A>G, p.Met1?; c.94A>T, p.Arg32*; c.205A>G, p.Lys69Glu; c.312G>A, p.Trp104*; c.412C>T, p.Arg138*; c.550del, p.Leu184*. PMID: 27052676 Wang et al 2016 Investigated the genetic basis of DSP in 2 five-generation Chinese families with members diagnosed with DSP. By whole-exome sequencing, they identified a nonsense variation c.412C>T (p.Arg138*) in PMVK in both families. PMID: 37315547 Zhang et al., 2023 Identified a novel heterozygous missense variant, c.207G>T (p. Lys69Asn) in PMVK in a Chinese pedigree with 4 individuals affected by porokeratosis. Patients presented with keratotic lesions in childhood / adolescence. Only 4 genes were sequenced: MVK, MVD, PMVK, and FDPS. PMID: 41296516 Narula et al., 2025 (online ahead of print) 20-year-old Indian man presented with persistent non-pruritic skin lesions: skin-coloured papules on the scrotum and pigmented annular plaques over the forearms, dorsum of the foot, elbows, knees, and buttocks. Heterozygous for NM_006556.4: c.412C>T (p.Arg138*) - same variant as reported in PMID: 27052676. |
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| Pigmentary skin disorders v4.6 | PMVK | Ida Ertmanska edited their review of gene: PMVK: Changed phenotypes to: Porokeratosis 1, multiple types, OMIM:175800, porokeratosis, MONDO:0006602 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v4.6 | PMVK | Ida Ertmanska edited their review of gene: PMVK: Changed publications to: 26202976, 27052676, 37315547, 41296516 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v4.6 | PMVK | Ida Ertmanska Classified gene: PMVK as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v4.6 | PMVK | Ida Ertmanska Gene: pmvk has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v4.5 | PMVK | Ida Ertmanska Tag Q4_25_promote_green tag was added to gene: PMVK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v4.5 | PMVK |
Ida Ertmanska changed review comment from: PMID: 26202976 Zhang et al. 2015 Screened 12 isoprenoid genes in 134 Chinese probands with porokeratosis and identified PMVK mutations: 9 cases (including related individuals) reported in Table 1. 2 variants (from a family and an individual) recorded in OMIM. These cases do NOT include DSAP/DSP cases though and instead include other subtypes of porokeratosis. PMID: 27052676 Wang et al 2016 investigated the genetic basis of DSP in two five-generation Chinese families with members diagnosed with DSP. By whole-exome sequencing, they identified a nonsense variation c.412C>T (p.Arg138*) in PMVK in both families. Sources: Literature; to: PMID: 26202976 Zhang et al. 2015 Screened 12 isoprenoid genes in 134 Chinese probands with porokeratosis and identified PMVK mutations: 9 unrelated families (some cases sporadic some familial). PMVK variants detected: c.1A>G, p.Met1?; c.94A>T, p.Arg32*;c.205A>G, p.Lys69Glu; c.312G>A, p.Trp104*; c.412C>T, p.Arg138*; c.550del, p.Leu184*. PMID: 27052676 Wang et al 2016 Investigated the genetic basis of DSP in 2 five-generation Chinese families with members diagnosed with DSP. By whole-exome sequencing, they identified a nonsense variation c.412C>T (p.Arg138*) in PMVK in both families. PMID: 37315547 Zhang et al., 2023 Identified a novel heterozygous missense variant, c.207G>T (p. Lys69Asn) in PMVK in a Chinese pedigree with 4 individuals affected by porokeratosis. Patients presented with keratotic lesions in childhood / adolescence. Only 4 genes were sequenced: MVK, MVD, PMVK, and FDPS. PMID: 41296516 Narula et al., 2025 (online ahead of print) 20-year-old Indian man presented with persistent non-pruritic skin lesions: skin-coloured papules on the scrotum and pigmented annular plaques over the forearms, dorsum of the foot, elbows, knees, and buttocks. Heterozygous for NM_006556.4: c.412C>T (p.Arg138*) - same variant as reported in PMID: 27052676. |
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| Pigmentary skin disorders v4.5 | PMVK |
Ida Ertmanska gene: PMVK was added gene: PMVK was added to Pigmentary skin disorders. Sources: Literature Mode of inheritance for gene: PMVK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PMVK were set to 26202976; 27052676 Phenotypes for gene: PMVK were set to Porokeratosis 1, multiple types, OMIM:175800 Review for gene: PMVK was set to GREEN Added comment: PMID: 26202976 Zhang et al. 2015 Screened 12 isoprenoid genes in 134 Chinese probands with porokeratosis and identified PMVK mutations: 9 cases (including related individuals) reported in Table 1. 2 variants (from a family and an individual) recorded in OMIM. These cases do NOT include DSAP/DSP cases though and instead include other subtypes of porokeratosis. PMID: 27052676 Wang et al 2016 investigated the genetic basis of DSP in two five-generation Chinese families with members diagnosed with DSP. By whole-exome sequencing, they identified a nonsense variation c.412C>T (p.Arg138*) in PMVK in both families. Sources: Literature |
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