Gastrointestinal epithelial barrier disorders
Gene: FERMT1
FERMT1 (fermitin family member 1)
EnsemblGeneIds (GRCh38): ENSG00000101311
EnsemblGeneIds (GRCh37): ENSG00000101311
OMIM: 607900, Gene2Phenotype
FERMT1 is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000101311
EnsemblGeneIds (GRCh37): ENSG00000101311
OMIM: 607900, Gene2Phenotype
FERMT1 is in 6 panels
3 reviews
Olivia Niblock (Genomics England Curator)
Comment on list classification: From internal clinical team review, it has been advised that there is not a distinctly clear gastrointestinal phenotype linked to this gene, however taking into account the expert review, I have promoted this to amber.Created: 25 Jul 2018, 1:21 p.m.
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)
Details
- Sources
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- Kindler syndrome
- OMIM
- 607900
- Clinvar variants
- Variants in FERMT1
- Penetrance
- None
- Panels with this gene
History Filter Activity
25 Jul 2018, Gel status: 2
Panel promoted to version 1.0
Olivia Niblock (Genomics England Curator)Panel reviews have been assessed and internal clinical team opinion has been sought on this panel, particularly to rule out incidental findings. Panel has been revised through expert review, internal review and literature research. 25/07/2018
25 Jul 2018, Gel status: 2
Entity classified by Genomics England curator
Olivia Niblock (Genomics England Curator)Gene: fermt1 has been classified as Amber List (Moderate Evidence).
17 Apr 2018, Gel status: 1
Set penetrance
Olivia Niblock (Genomics England Curator)Phenotypes for gene FERMT1 were set to Kindler syndrome
17 Apr 2018, Gel status: 1
Added New Source
Olivia Niblock (Genomics England Curator)FERMT1 was added to Gastrointestinal epithelial barrier disorders panel. Sources: Expert list
17 Apr 2018, Gel status: 1
Created
Olivia Niblock (Genomics England Curator)FERMT1 was created by Olivia Niblock