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Mosaic skin disorders - deep sequencing v3.1 CARD14 Ida Ertmanska changed review comment from: PMID: 34116062 Riachi et al., 2021
2 probands with heterozygous mosaic CARD14 variants, diagnosed with Inflammatory linear verrucous epidermal naevus (ILVEN).
Patient 1: c.356T > A, p.Met119Lys present in 20% of DNA. Variant not present in gnomAD v4. Same variant in a non-mosaic state caused pityriasis rubra pilaris (PMID: 28301045 Lwin et al., 2018).
Patient 2: c.277A>G, p.Lys93Glu present in 1% of DNA extracted from affected skin. Variant not in gnomAD v4.
Functional evidence - patient 2 keratinocyte culture: WST-1 proliferation assay showed a significant a proliferation rate increase; ELISA showed a significant increase in NF-κB p65 subunit activity.

PMID: 38360177 Polubothu et al., 2024
2 patients with ILVEN with mosaic variants in CARD14 picked up on 250x WES - patient / variant details not specified.

PMID: 35853659 Atzmony et al., 2023
Patient 2 - female patient diagnosed with ILVEN, developed psoriasis vulgaris at 13 months; het for germline variant CARD14 c. 2044C>T, p.R682W; she also carried a post-zygotic variant in KRT10: c.467G>A, p.R156H. The CARD14 variant is very common (MAF = 0.01604 in gnomAD v4 - European population, total of 30 homozygotes reported). Mosaic KRT10 more likely to be causal?

This gene is associated with AD Pityriasis rubra pilaris MIM:173200 and AD Psoriasis 2 MIM:602723 in OMIM (accessed 28th Nov 2025).; to: PMID: 34116062 Riachi et al., 2021
2 probands with heterozygous mosaic CARD14 variants, diagnosed with Inflammatory linear verrucous epidermal naevus (ILVEN).
Patient 1: c.356T > A, p.Met119Lys present in 20% of DNA. Variant not present in gnomAD v4. Same variant in a non-mosaic state caused pityriasis rubra pilaris (PMID: 28301045 Lwin et al., 2018).
Patient 2: c.277A>G, p.Lys93Glu present in 1% of DNA extracted from affected skin. Variant not in gnomAD v4.
Functional evidence: WST-1 proliferation assay showed a significant a proliferation rate increase in SVK14 cells transfected with the mutant CARD14 construct; ELISA showed a significant increase in NF-κB p65 subunit activity in patient 2 keratinocyte culture.

PMID: 38360177 Polubothu et al., 2024
2 patients with ILVEN with mosaic variants in CARD14 picked up on 250x WES - patient / variant details not specified.

PMID: 35853659 Atzmony et al., 2023
Patient 2 - female patient diagnosed with ILVEN, developed psoriasis vulgaris at 13 months; het for germline variant CARD14 c. 2044C>T, p.R682W; she also carried a post-zygotic variant in KRT10: c.467G>A, p.R156H. The CARD14 variant is very common (MAF = 0.01604 in gnomAD v4 - European population, total of 30 homozygotes reported). Mosaic KRT10 more likely to be causal?

This gene is associated with AD Pityriasis rubra pilaris MIM:173200 and AD Psoriasis 2 MIM:602723 in OMIM (accessed 28th Nov 2025).
Mosaic skin disorders - deep sequencing v3.1 CARD14 Ida Ertmanska changed review comment from: PMID: 34116062 Riachi et al., 2021
2 probands with heterozygous mosaic CARD14 variants, diagnosed with Inflammatory linear verrucous epidermal naevus (ILVEN).
Patient 1: c.356T > A, p.Met119Lys present in 20% of DNA. Variant not present in gnomAD v4. Same variant in a non-mosaic state caused pityriasis rubra pilaris (PMID: 28301045 Lwin et al., 2018).
Patient 2: c.277A>G, p.Lys93Glu present in 1% of DNA extracted from affected skin. Variant not in gnomAD v4.

PMID: 38360177 Polubothu et al., 2024
2 patients with ILVEN with mosaic variants in CARD14 picked up on 250x WES - patient / variant details not specified.

PMID: 35853659 Atzmony et al., 2023
Patient 2 - female patient diagnosed with ILVEN, developed psoriasis vulgaris at 13 months; het for germline variant CARD14 c. 2044C>T, p.R682W; she also carried a post-zygotic variant in KRT10: c.467G>A, p.R156H. The CARD14 variant is very common (MAF = 0.01604 in gnomAD v4 - European population, total of 30 homozygotes reported). Mosaic KRT10 more likely to be causal?

This gene is associated with AD Pityriasis rubra pilaris MIM:173200 and AD Psoriasis 2 MIM:602723 in OMIM (accessed 28th Nov 2025).; to: PMID: 34116062 Riachi et al., 2021
2 probands with heterozygous mosaic CARD14 variants, diagnosed with Inflammatory linear verrucous epidermal naevus (ILVEN).
Patient 1: c.356T > A, p.Met119Lys present in 20% of DNA. Variant not present in gnomAD v4. Same variant in a non-mosaic state caused pityriasis rubra pilaris (PMID: 28301045 Lwin et al., 2018).
Patient 2: c.277A>G, p.Lys93Glu present in 1% of DNA extracted from affected skin. Variant not in gnomAD v4.
Functional evidence - patient 2 keratinocyte culture: WST-1 proliferation assay showed a significant a proliferation rate increase; ELISA showed a significant increase in NF-κB p65 subunit activity.

PMID: 38360177 Polubothu et al., 2024
2 patients with ILVEN with mosaic variants in CARD14 picked up on 250x WES - patient / variant details not specified.

PMID: 35853659 Atzmony et al., 2023
Patient 2 - female patient diagnosed with ILVEN, developed psoriasis vulgaris at 13 months; het for germline variant CARD14 c. 2044C>T, p.R682W; she also carried a post-zygotic variant in KRT10: c.467G>A, p.R156H. The CARD14 variant is very common (MAF = 0.01604 in gnomAD v4 - European population, total of 30 homozygotes reported). Mosaic KRT10 more likely to be causal?

This gene is associated with AD Pityriasis rubra pilaris MIM:173200 and AD Psoriasis 2 MIM:602723 in OMIM (accessed 28th Nov 2025).
Mosaic skin disorders - deep sequencing v3.1 CARD14 Ida Ertmanska changed review comment from: PMID: 34116062 Riachi et al., 2021
2 probands with heterozygous mosaic CARD14 variants, diagnosed with Inflammatory linear verrucous epidermal naevus (ILVEN).
Patient 1: c.356T > A, p.Met119Lys present in 20% of DNA. Variant not present in gnomAD v4. Same variant in a non-mosaic state caused pityriasis rubra pilaris (PMID: 28301045 Lwin et al., 2018).
Patient 2: c.277A>G, p.Lys93Glu present in 1% of DNA extracted from affected skin. Variant not in gnomAD v4.
This gene is associated with AD Pityriasis rubra pilaris MIM:173200 and AD Psoriasis 2 MIM:602723 in OMIM (accessed 28th Nov 2025).

PMID: 35853659 Atzmony et al., 2023
Patient 2 - female patient diagnosed with ILVEN, developed psoriasis vulgaris at 13 months; het for germline variant CARD14 c. 2044C>T, p.R682W; she also carried a post-zygotic variant in KRT10: c.467G>A, p.R156H. The CARD14 variant is very common (MAF = 0.01604 in gnomAD v4 - European population, total of 30 homozygotes reported). Mosaic KRT10 more likely to be causal?; to: PMID: 34116062 Riachi et al., 2021
2 probands with heterozygous mosaic CARD14 variants, diagnosed with Inflammatory linear verrucous epidermal naevus (ILVEN).
Patient 1: c.356T > A, p.Met119Lys present in 20% of DNA. Variant not present in gnomAD v4. Same variant in a non-mosaic state caused pityriasis rubra pilaris (PMID: 28301045 Lwin et al., 2018).
Patient 2: c.277A>G, p.Lys93Glu present in 1% of DNA extracted from affected skin. Variant not in gnomAD v4.

PMID: 38360177 Polubothu et al., 2024
2 patients with ILVEN with mosaic variants in CARD14 picked up on 250x WES - patient / variant details not specified.

PMID: 35853659 Atzmony et al., 2023
Patient 2 - female patient diagnosed with ILVEN, developed psoriasis vulgaris at 13 months; het for germline variant CARD14 c. 2044C>T, p.R682W; she also carried a post-zygotic variant in KRT10: c.467G>A, p.R156H. The CARD14 variant is very common (MAF = 0.01604 in gnomAD v4 - European population, total of 30 homozygotes reported). Mosaic KRT10 more likely to be causal?

This gene is associated with AD Pityriasis rubra pilaris MIM:173200 and AD Psoriasis 2 MIM:602723 in OMIM (accessed 28th Nov 2025).
Mosaic skin disorders - deep sequencing v1.5 TYRP1 Arina Puzriakova Tag curated_removed tag was added to gene: TYRP1.
Mosaic skin disorders - deep sequencing v1.5 TYR Arina Puzriakova Tag curated_removed tag was added to gene: TYR.
Mosaic skin disorders - deep sequencing v0.16 TYRP1 Tom Cullup reviewed gene: TYRP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Oculocutaneous albinism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 TYR Tom Cullup reviewed gene: TYR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Oculocutaneous albinism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.15 TYRP1 Catherine Snow Source Expert Review Removed was added to TYRP1.
Rating Changed from Green List (high evidence) to No List (delete)
Mosaic skin disorders - deep sequencing v0.15 TYR Catherine Snow Source Expert Review Removed was added to TYR.
Rating Changed from Green List (high evidence) to No List (delete)
Mosaic skin disorders - deep sequencing v0.7 TYRP1 Rebecca Foulger Source London North GLH was added to TYRP1.
Mosaic skin disorders - deep sequencing v0.7 TYR Rebecca Foulger Source London North GLH was added to TYR.
Mosaic skin disorders - deep sequencing v0.4 TYRP1 Rebecca Foulger reviewed gene: TYRP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 TYR Rebecca Foulger reviewed gene: TYR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.3 TYRP1 Rebecca Foulger gene: TYRP1 was added
gene: TYRP1 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TYRP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TYRP1 were set to Oculocutaneous albinism
Mosaic skin disorders - deep sequencing v0.3 TYR Rebecca Foulger gene: TYR was added
gene: TYR was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TYR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TYR were set to Oculocutaneous albinism