Genomics England
GMS Panels
Panels
Genes and Entities

FERMT3

fermitin family member 3
OMIM: 607901
PanelMode of inheritanceDetails
4 panels
Green
in Bleeding and platelet disorders
R-numbers: R90
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
612840 Leukocyte integrin adhesion deficiency, type III
Green
in Osteopetrosis
R-numbers: R104.4
Signed-off version 1.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukocyte adhesion deficiency, type III 612840
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukocyte adhesion deficiency, type III, 612840, LAD, LAD type 1 plus bleeding tendency, Congenital defects of phagocyte number or function
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukocyte adhesion deficiency, type III 612840, (Moderate osteopetrosis) Kilic SS et al. The clinical spectrum of leukocyte adhesion deficiency (LAD) III due to defective CalDAG-GEF1. J Clin Immunol. 2009 Jan, 29(1):117-22.