Infantile enterocolitis & monogenic inflammatory bowel disease

Gene: FERMT1

Green List (high evidence)

FERMT1 (fermitin family member 1)
EnsemblGeneIds (GRCh38): ENSG00000101311
EnsemblGeneIds (GRCh37): ENSG00000101311
OMIM: 607900, Gene2Phenotype
FERMT1 is in 6 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

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.

Neil shah (GOSH)

Green List (high evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Kindler syndrome
OMIM
607900
Clinvar variants
Variants in FERMT1
Penetrance
Complete
Publications
  • 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.
Panels with this gene

History Filter Activity

14 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.

12 Oct 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for FERMT1 was changed to BIALLELIC, autosomal or pseudoautosomal

12 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

12 Oct 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

12 Oct 2016, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

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.

12 Oct 2016, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

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.

10 May 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

FERMT1 was created by ellenmcdonagh

10 May 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

FERMT1 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list