Infantile enterocolitis & monogenic inflammatory bowel diseaseGene: FERMT1
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.
14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.
Mode of inheritance for FERMT1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
This gene has been classified as Red List (Low Evidence).
Publications for FERMT1 were set to 27537055 - pathogenic variant (heterozygous) in this gene reported in a patient using whole exome sequencing screening in 147 pediatric patients with monogenic Inflammatory Bowel Disease.
Publications for FERMT1 were set to 27537055 - pathogenic variant in this gene reported in a patient using whole exome sequencing screening in 147 pediatric patients with monogenic Inflammatory Bowel Disease.
FERMT1 was created by ellenmcdonagh
FERMT1 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list