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Prepair 1000+

Gene: FERMT3

Green List (high evidence)

FERMT3 (fermitin family member 3)
EnsemblGeneIds (GRCh38): ENSG00000149781
EnsemblGeneIds (GRCh37): ENSG00000149781
OMIM: 607901, Gene2Phenotype
FERMT3 is in 11 panels

1 review

Melanie Marty (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene-disease association.

Onset in infancy, significant immunodeficiency.
Created: 6 Mar 2025, 11:06 p.m. | Last Modified: 6 Mar 2025, 11:06 p.m.
Panel Version: 1.1568

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukocyte adhesion deficiency, type III, MIM# 612840

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leukocyte adhesion deficiency, type III, 612840 (3)
OMIM
607901
Clinvar variants
Variants in FERMT3
Penetrance
None
Panels with this gene

History Filter Activity

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FERMT3 was added gene: FERMT3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: FERMT3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FERMT3 were set to Leukocyte adhesion deficiency, type III, 612840 (3)