Inherited bleeding disorders

Gene: FERMT3

Green List (high evidence)

FERMT3 (fermitin family member 3)
EnsemblGeneIds (GRCh38): ENSG00000149781
EnsemblGeneIds (GRCh37): ENSG00000149781
OMIM: 607901, Gene2Phenotype
FERMT3 is in 4 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukocyte integrin adhesion deficiency, type III

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukocyte integrin adhesion deficiency, type III

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Leukocyte integrin adhesion deficiency, type III
OMIM
607901
Clinvar variants
Variants in FERMT3
Penetrance
Complete
Panels with this gene

History Filter Activity

19 Dec 2016, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Revised 19 December 2016

19 Dec 2016, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

FERMT3 was added to Inherited bleeding disorderspanel. Source: Expert Review Green

9 Sep 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

FERMT3 was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene

9 Sep 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

FERMT3 was created by ellenmcdonagh