Inflammatory bowel disease
Gene: FMNL2

FMNL2 (formin like 2)
EnsemblGeneIds (GRCh38): ENSG00000157827
EnsemblGeneIds (GRCh37): ENSG00000157827
OMIM: 616285, Gene2Phenotype
FMNL2 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

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).
Sources: Literature
Created: 3 Nov 2023, 12:57 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
inflammatory bowel disease, MONDO:0005265, FMNL2-related

Publications

34043722

Created: 3 Nov 2023, 12:57 a.m.

Panel version: 0.110

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
Literature

Phenotypes

inflammatory bowel disease, MONDO:0005265, FMNL2-related

OMIM

616285

Clinvar variants

Variants in FMNL2

Penetrance

None

Publications

34043722

Panels with this gene

History Filter Activity

3 Nov 2023, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fmnl2 has been classified as Red List (Low Evidence).

3 Nov 2023, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes