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  3. FMNL2
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Primary immunodeficiency or monogenic inflammatory bowel disease

Gene: FMNL2

Amber List (moderate evidence)
FMNL2 (formin like 2)
EnsemblGeneIds (GRCh38): ENSG00000157827
EnsemblGeneIds (GRCh37): ENSG00000157827
OMIM: 616285, Gene2Phenotype
FMNL2 is in 1 panel

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

I don't know

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

Created: 2 Nov 2023, 3:08 p.m.
Last Modified: 2 Nov 2023, 3:08 p.m.
Panel version: 4.116

Hannah Knight (NIHR BioResource - University of Cambridge)

I don't know

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: Literature
Created: 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

Created: 24 Oct 2023, 9:22 a.m.

Panel version: 4.53

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • inflammatory bowel disease, MONDO:0005265
OMIM
616285
Clinvar variants
Variants in FMNL2
Penetrance
None
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
Panels with this gene

History Filter Activity

2 Nov 2023, Gel status: 2

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: FMNL2 were changed from Severe very early onset inflammatory bowel disease to inflammatory bowel disease, MONDO:0005265

2 Nov 2023, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: fmnl2 has been classified as Amber List (Moderate Evidence).

2 Nov 2023, Gel status: 0

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

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

24 Oct 2023, Gel status: 0

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

Hannah Knight (NIHR BioResource - University of Cambridge)

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