Infantile enterocolitis & monogenic inflammatory bowel diseaseGene: FERMT1
The gene-disease association with Kindler syndrome is well established. There are reports of UC in Kindler syndrome; however coincidence or causation unclear. Note mouse model has gut epithelial dysfunction, PMID 19057668. Heterozygous variant reported in an IBD cohort, PMID 27537055. Other rare variants reported in another IBD cohort, PMID 32463623, however did not meet ACMG criteria for P/LP classification. Overall, limited/conflicting evidence implicating variants in FERMT1 in monogenic IBD.
Created: 25 Aug 2020, 8:17 a.m. | Last Modified: 25 Aug 2020, 8:17 a.m.
Panel Version: 1.16
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Kindler syndrome, MIM# 173650
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