Activity
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24 actions
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| Rare genetic inflammatory skin disorders v4.5 | FLG | Arina Puzriakova Classified gene: FLG as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v4.5 | FLG | Arina Puzriakova Gene: flg has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v4.4 | FLG | Arina Puzriakova Mode of inheritance for gene: FLG was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v4.3 | FLG | Arina Puzriakova Publications for gene: FLG were set to 16550169 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v4.2 | FLG | Arina Puzriakova Phenotypes for gene: FLG were changed from Eczema; Ichthyosis vulgaris 146700; Ichthyosis vulgaris to Ichthyosis vulgaris, OMIM:146700; Dermatitis, atopic, susceptibility to, 2, OMIM:605803; hereditary palmoplantar keratoderma, MONDO:0019272 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v4.1 | FLG |
Ida Ertmanska changed review comment from: Comment on mode of inheritance: MOI should be changed from 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal' at the next update. Biallelic variants are associated with severe Ichthyosis vulgaris. Monoallelic variants are associated with a mild phenotype and incomplete penetrance (PMID: 16444271 Smith et al., 2006). Heterozygous individuals also have an increased susceptibility to atopic dermatitis (PMID: 16550169 Palmer et al., 2006).; to: Comment on mode of inheritance: MOI should be changed from 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal'. Biallelic variants are associated with severe Ichthyosis vulgaris. Monoallelic variants are associated with a mild phenotype and incomplete penetrance (PMID: 16444271 Smith et al., 2006). Heterozygous individuals also have an increased susceptibility to atopic dermatitis (PMID: 16550169 Palmer et al., 2006). |
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| Rare genetic inflammatory skin disorders v4.1 | FLG |
Ida Ertmanska edited their review of gene: FLG: Added comment: Comment on mode of inheritance: MOI should be changed from 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal' at the next update. Biallelic variants are associated with severe Ichthyosis vulgaris. Monoallelic variants are associated with a mild phenotype and incomplete penetrance (PMID: 16444271 Smith et al., 2006). Heterozygous individuals also have an increased susceptibility to atopic dermatitis (PMID: 16550169 Palmer et al., 2006).; Changed publications to: 16444271, 16550169 |
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| Rare genetic inflammatory skin disorders v4.1 | FLG |
Ida Ertmanska changed review comment from: As reviewed by Ronnie Wright, FLG is associated with Ichthyosis vulgaris, which does not fit into the current scope of the Rare genetic inflammatory skin disorders panel. It should be rated Red based on the available evidence. The gene is already rated Green on the following panels: Ichthyosis and erythrokeratoderma and Palmoplantar keratodermas. FLG is associated with Ichthyosis vulgaris (AD &AR) OMIM:146700 and {Dermatitis, atopic, susceptibility to, 2} AD OMIM: 605803 in OMIM (accessed 18th Sep 2025).; to: Comment on list classification: As reviewed by Ronnie Wright, FLG is associated with Ichthyosis vulgaris, which does not fit into the current scope of the Rare genetic inflammatory skin disorders panel. It should be rated Red based on the available evidence. The gene is already rated Green on the following panels: Ichthyosis and erythrokeratoderma and Palmoplantar keratodermas. FLG is associated with Ichthyosis vulgaris (AD &AR) OMIM:146700 and {Dermatitis, atopic, susceptibility to, 2} AD OMIM: 605803 in OMIM (accessed 18th Sep 2025). |
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| Rare genetic inflammatory skin disorders v4.1 | FLG | Ida Ertmanska reviewed gene: FLG: Rating: RED; Mode of pathogenicity: None; Publications: 16444271; Phenotypes: Ichthyosis vulgaris, OMIM:146700, Dermatitis, atopic, susceptibility to, 2, OMIM: 605803, ichthyosis vulgaris, MONDO:0024304; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v4.1 | FLG | Ronnie Wright reviewed gene: FLG: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:16444271; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.22 | FLG |
Catherine Snow Source Expert Review Amber was added to FLG. Added phenotypes Eczema; Ichthyosis vulgaris 146700; Ichthyosis vulgaris for gene: FLG Publications for gene FLG were changed from 16444271; 16815158; 17030239; 17291859 to 16550169 Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Rare genetic inflammatory skin disorders v0.21 | FLG | Tom Cullup reviewed gene: FLG: Rating: AMBER; Mode of pathogenicity: ; Publications: 16550169; Phenotypes: Ichthyosis vulgaris, Eczema, Ichthyosis vulgaris 146700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.10 | FLG | Ellen McDonagh Added comment: Comment on publications: PMID: 17291859 - report a truncating variant and indel identified in Japanese patients with ichthyosis vulgaris and atopic dermatitis. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.10 | FLG | Ellen McDonagh Publications for gene: FLG were set to 16444271; 16815158; 17030239 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.9 | FLG | Ellen McDonagh Publications for gene: FLG were set to 16444271; 16815158 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.8 | FLG | Ellen McDonagh Added comment: Comment on publications: PMID: association of loss-of-function variants in thie gene and susceptibility to extrinsic atopic dermatitis, allergic sensitization, total IgE level, asthma, and palmar hyperlinearity. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.8 | FLG | Ellen McDonagh Publications for gene: FLG were set to 16444271 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.7 | FLG | Ellen McDonagh edited their review of gene: FLG: Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.7 | FLG | Ellen McDonagh Phenotypes for gene: FLG were changed from Ichthyosis vulgaris; Eczema to Ichthyosis vulgaris; Eczema; Ichthyosis vulgaris 146700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.6 | FLG | Ellen McDonagh Added comment: Comment on publications: PMID: 16444271 - reports 7 unrelated families and 8 sporadic cases with Ichthyosis vulgaris who were homozygous for a stop codon (rs61816761), or compound heterozygous for this variant and a frameshift variant (rs558269137). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.6 | FLG | Ellen McDonagh Publications for gene: FLG were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.5 | FLG | Rebecca Foulger Source London North GLH was added to FLG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.4 | FLG | Rebecca Foulger reviewed gene: FLG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.3 | FLG |
Rebecca Foulger gene: FLG was added gene: FLG was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: FLG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FLG were set to Ichthyosis vulgaris; Eczema |
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