PanelApp
  1. Genes and Genomic Entities
  2. FERMT3

FERMT3

fermitin family member 3
OMIM: 607901, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green FERMT3 in Bleeding and Platelet Disorders


Level 2: Haematological disorders
Version 1.62

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Leukocyte adhesion deficiency, type III, MIM# 612840

Green FERMT3 in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.151

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green FERMT3 in Mendeliome


Version 1.3512

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Leukocyte adhesion deficiency, type III, MIM# 612840

Green FERMT3 in Osteopetrosis


Level 2: Skeletal disorders
Version 0.38

1 review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green FERMT3 in Phagocyte Defects


Level 2: Immunological disorders
Version 1.44

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Leukocyte adhesion deficiency, type III, MIM# 612840

    Green FERMT3 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.346

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • NHS GMS
    • Victorian Clinical Genetics Services
    Phenotypes
    • (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.
    • Leukocyte adhesion deficiency, type III 612840

    Green FERMT3 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Leukocyte adhesion deficiency, type III, 612840 (3)

    Red FERMT3 in Fetal anomalies


    Version 1.465

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Leukocyte adhesion deficiency, type III - MIM#612840

    Green FERMT3 in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Leukocyte adhesion deficiency, type III, 612840 (3)

    Green FERMT3 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BeginNGS
    Phenotypes
    • Leukocyte adhesion deficiency, type III, MIM# 612840
    Tags
    • treatable
    • immunological

    Green FERMT3 in Transplant Co-Morbidity


    Level 2: Screening
    Version 0.20

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Leukocyte adhesion deficiency, type III, MIM# 612840