Inflammatory bowel disease
Gene: FERMT1

FERMT1 (fermitin family member 1)
EnsemblGeneIds (GRCh38): ENSG00000101311
EnsemblGeneIds (GRCh37): ENSG00000101311
OMIM: 607900, Gene2Phenotype
FERMT1 is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Reports of UC in Kindler syndrome; however coincidence or causation unclear. Note mouse model has gut epithelial dysfunction. 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, 8:13 a.m. | Last Modified: 25 Aug 2020, 8:13 a.m.

Panel Version: 0.28

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Kindler syndrome, MIM# 173650

Publications

Created: 25 Aug 2020, 8:13 a.m.
Last Modified: 25 Aug 2020, 8:13 a.m.
Panel version: 0.28

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Red
Victorian Clinical Genetics Services

Phenotypes

Kindler syndrome, MIM# 173650

OMIM

607900

Clinvar variants

Variants in FERMT1

Penetrance

None

Publications

Panels with this gene