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STRs in panel
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Primary immunodeficiency

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

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

This gene has been confirmed for this panel by the NHS Genomic Medicine Service as the eligibility criteria of R15 has been extended to include IBD genes and should be rated green.
Created: 8 Mar 2022, 3:09 p.m. | Last Modified: 8 Mar 2022, 3:09 p.m.
Panel Version: 2.536

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
  • Expert Review Green
  • IUIS Classification December 2019
Phenotypes
  • Dermatosis characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling
  • Kindler syndrome, 173650
  • Diseases of Immune Dysregulation
  • Kindler syndrome, OMIM:173650
  • FERMT1 deficiency (Kindler syndrome)
OMIM
607900
Clinvar variants
Variants in FERMT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Mar 2022, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to FERMT1. Added phenotypes Kindler syndrome, OMIM:173650 for gene: FERMT1 Rating Changed from Red List (low evidence) to Green List (high evidence)

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