Rare genetic inflammatory skin disorders
Gene: FLG
Evidence for common FLG pathogenic variants associated with atopic dermatitis, but phenotype is not covered by testing criteria document.Created: 12 Dec 2019, 3:08 p.m. | Last Modified: 12 Dec 2019, 3:08 p.m.
Panel Version: 0.21
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ichthyosis vulgaris; Eczema; Ichthyosis vulgaris 146700
Publications
Comment on publications: PMID: 17291859 - report a truncating variant and indel identified in Japanese patients with ichthyosis vulgaris and atopic dermatitis.Created: 1 Mar 2019, 10:28 a.m.
Comment on publications: PMID: 16815158 and 17030239 are susceptibility studies that have shown an association of two loss-of-function variants in this gene, and susceptibility to extrinsic atopic dermatitis, allergic sensitization, total IgE level, asthma, and palmar hyperlinearity, eczema.Created: 1 Mar 2019, 10:06 a.m.
Comment on publications: PMID: 16444271 - reports 7 unrelated families and 8 sporadic cases with Ichthyosis vulgaris who were heterozygous or homozygous for a stop codon (rs61816761), or compound heterozygous for this variant and a frameshift variant (rs558269137). Homozygous/compound heterozygous cases had more pronounced phenotype.Created: 1 Mar 2019, 10:02 a.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: FLG; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): Hard to sequence with short-read sequencing (highly repetitive)Created: 31 Jan 2019, 2:02 p.m.
Variants in this GENE are reported as part of current diagnostic practice
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)
Publications for gene: FLG were set to 16444271; 16815158; 17030239
Publications for gene: FLG were set to 16444271; 16815158
Publications for gene: FLG were set to 16444271
Phenotypes for gene: FLG were changed from Ichthyosis vulgaris; Eczema to Ichthyosis vulgaris; Eczema; Ichthyosis vulgaris 146700
Publications for gene: FLG were set to
Source London North GLH was added to FLG.
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