Date Panel Item Activity
4 actions
Primary lymphoedema v1.35 FAT4 Ellen McDonagh reviewed gene: FAT4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary lymphoedema v1.34 FAT4 Ellen McDonagh Source London South GLH was added to FAT4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Primary lymphoedema v1.28 DCHS1 Anna de Burca Added comment: Comment on publications: 3 homozygous variants in 3 unrelated consanguineous families with Van Maldergem syndrome. Lymphoedema is not a feature of Van Maldergem syndrome but Hennekam lymphoedema can be caused by mutations in FAT4 (the receptor for DHCS1) and this paper also reports variants in FAT4 in Van Maldergem syndrome. PMID: 24913602 states that there is considerable overlap in phenotype between the two conditions.
Primary lymphoedema v1.26 DCHS1 Rebecca Foulger gene: DCHS1 was added
gene: DCHS1 was added to Lymphatic Disorders. Sources: UKGTN
Mode of inheritance for gene: DCHS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DCHS1 were set to Van Maldergem syndrome 1, 601390
Added comment: Added DCHS1 to panel as requested by Athina Ververi at GOSH, because DCHS1 is on the St. George's lymphoedema 15-gene panel (September 2017). DCHS1 is a ligand for FAT4 (Green gene on this panel), and current evidence appears to be biochemical rather than variant case studies so kept rating as Red.
Sources: UKGTN