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  3. FERMT3
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Osteopetrosis

Gene: FERMT3

Green List (high evidence)
FERMT3 (fermitin family member 3)
EnsemblGeneIds (GRCh38): ENSG00000149781
EnsemblGeneIds (GRCh37): ENSG00000149781
OMIM: 607901, Gene2Phenotype
FERMT3 is in 7 panels

1 review

Eleanor Williams (Genomics England Curator)

This gene has been added to the panel as green on the recommendation of GMS specialist disease group experts.
Created: 20 Aug 2020, 4:32 p.m. | Last Modified: 20 Aug 2020, 4:32 p.m.
Panel Version: 0.3
Created: 20 Aug 2020, 4:32 p.m.
Last Modified: 20 Aug 2020, 4:32 p.m.
Panel version: 0.3

Details

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

History Filter Activity

15 Mar 2021, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: FERMT3 were changed from Leukocyte adhesion deficiency, type III 612840 to Leukocyte adhesion deficiency, type III OMIM:612840

20 Aug 2020, Gel status: 3

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

Catherine Snow (Genomics England)

gene: FERMT3 was added gene: FERMT3 was added to Osteopetrosis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: FERMT3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FERMT3 were set to 18709451 Phenotypes for gene: FERMT3 were set to Leukocyte adhesion deficiency, type III 612840