Gastrointestinal epithelial barrier disorders
Gene: FERMT1Comment on list classification: From internal clinical team review, it has been advised that there is not a distinctly clear gastrointestinal phenotype linked to this gene, however taking into account the expert review, I have promoted this to amber.Created: 25 Jul 2018, 1:21 p.m.
Comment on mode of inheritance: Majority of reports are for homozygous variants in this gene. One report reports a pathogenic heterozygous variant PMID: 27537055 -
"In the 3 patients with XIAP, SKIV2L, and FERMT1 variants, individuals' disease features resembled the monogenic phenotype. This was despite apparent heterozygous carriage of pathogenic variation for the latter 2 genes."Created: 12 Oct 2016, 1:05 p.m.
Comment on list classification: Promoted from red to green due to expert review. Multiple reports of Kindler syndrome patients from different ethnicities (North African, Panama, white American, Middle Eastern Omani, British, Turkish), and multiple different variants reported.Created: 12 Oct 2016, 12:44 p.m.
Panel reviews have been assessed and internal clinical team opinion has been sought on this panel, particularly to rule out incidental findings. Panel has been revised through expert review, internal review and literature research. 25/07/2018
Gene: fermt1 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene FERMT1 were set to Kindler syndrome
FERMT1 was added to Gastrointestinal epithelial barrier disorders panel. Sources: Expert list
FERMT1 was created by Olivia Niblock