Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: FMNL2
A patient was reported with a de novo heterozygous FMNL2 variant (p.Leu136Pro) and with severe very early onset inflammatory bowel disease (IBD). The functional characterisation of this variant showed that FMNL2 L136P protein displayed subcellular mislocalisation and deregulated protein autoinhibition indicating gain-of-function mechanism (PMID:34043722).
This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.Created: 2 Nov 2023, 3:08 p.m. | Last Modified: 2 Nov 2023, 3:08 p.m.
Panel Version: 4.116
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
inflammatory bowel disease, MONDO:0005265
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
PMID: 34043722 reported a patient who presented with severe very early onset inflammatory bowel disease, with a de novo heterozygous FMNL2 variant (p.Leu136Pro)
Sources: LiteratureCreated: 24 Oct 2023, 9:22 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Severe very early onset inflammatory bowel disease
Publications
Phenotypes for gene: FMNL2 were changed from Severe very early onset inflammatory bowel disease to inflammatory bowel disease, MONDO:0005265
Gene: fmnl2 has been classified as Amber List (Moderate Evidence).
Mode of pathogenicity for gene: FMNL2 was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
gene: FMNL2 was added gene: FMNL2 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: FMNL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FMNL2 were set to 34043722 Phenotypes for gene: FMNL2 were set to Severe very early onset inflammatory bowel disease Review for gene: FMNL2 was set to AMBER