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STRs in panel
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Primary immunodeficiency

Gene: FERMT1

Red List (low evidence)

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

1 review

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
  • IUIS Classification December 2019
Phenotypes
  • Kindler syndrome, 173650
  • FERMT1 deficiency (Kindler syndrome)
  • 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

28 Feb 2020, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene FERMT1 were updated from 32048120; 32086639 to 32086639; 32048120; 21936020

28 Feb 2020, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

gene: FERMT1 was added gene: FERMT1 was added to Primary immunodeficiency. 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 32048120; 32086639 Phenotypes for gene: FERMT1 were set to Kindler syndrome, 173650; FERMT1 deficiency (Kindler syndrome); Diseases of Immune Dysregulation; Dermatosis characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling