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| 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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