Genes in panel
STRs in panel
Prev Next

COVID-19 research

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

Sophie Hambleton (Newcastle University)

Green List (high evidence)

IUIS gene
Created: 1 May 2020, 10:16 a.m. | Last Modified: 1 May 2020, 10:16 a.m.
Panel Version: 0.171

Louise Daugherty (Genomics England Curator)

I don't know

Added publication referenced by IUIS december 2019 update
Created: 28 Feb 2020, 8:49 p.m. | Last Modified: 28 Feb 2020, 8:49 p.m.
Panel Version: 2.36

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • FERMT1 deficiency (Kindler syndrome)
  • Kindler syndrome, 173650
  • Diseases of Immune Dysregulation
  • Dermatosis characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling
OMIM
607900
Clinvar variants
Variants in FERMT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Apr 2020, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Ellen McDonagh (Genomics England Curator)

Source Expert Review Green was added to FERMT1. Added phenotypes FERMT1 deficiency (Kindler syndrome); Diseases of Immune Dysregulation; Kindler syndrome, 173650; Dermatosis characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling for gene: FERMT1 Rating Changed from Red List (low evidence) to Green List (high evidence)

1 Apr 2020, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: FERMT1 was added gene: FERMT1 was added to Viral susceptibility. Sources: IUIS Classification December 2019 Mode of inheritance for gene: FERMT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FERMT1 were set to 32086639; 32048120; 21936020 Phenotypes for gene: FERMT1 were set to FERMT1 deficiency (Kindler syndrome); Diseases of Immune Dysregulation; Kindler syndrome, 173650; Dermatosis characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling