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  2. Bleeding and Platelet Disorders
  3. FERMT3
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Bleeding and Platelet Disorders

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Epistaxis, mucosal bleeding, defective platelet adhesion.
Sources: Expert list
Created: 12 Aug 2020, 4:06 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukocyte adhesion deficiency, type III, MIM# 612840

Created: 12 Aug 2020, 4:06 a.m.

Panel version: 0.72

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Leukocyte adhesion deficiency, type III, MIM# 612840
OMIM
607901
Clinvar variants
Variants in FERMT3
Penetrance
None
Panels with this gene

History Filter Activity

12 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fermt3 has been classified as Green List (High Evidence).

12 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fermt3 has been classified as Green List (High Evidence).

12 Aug 2020, Gel status: 1

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 Bleeding Disorders. Sources: Expert list 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, MIM# 612840 Review for gene: FERMT3 was set to GREEN