Osteopetrosis
Gene: FERMT3
FERMT3 (fermitin family member 3)
EnsemblGeneIds (GRCh38): ENSG00000149781
EnsemblGeneIds (GRCh37): ENSG00000149781
OMIM: 607901, Gene2Phenotype
FERMT3 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000149781
EnsemblGeneIds (GRCh37): ENSG00000149781
OMIM: 607901, Gene2Phenotype
FERMT3 is in 11 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Osteopetrosis develops in severe cases of LAD - onset is typically in early childhood. Most patients are treated with bone marrow transplants.
Variants have been reported in individuals with osteopetrosis and a supportive mouse model recapitulating the human phenotype.Created: 29 Nov 2024, 2:16 a.m. | Last Modified: 29 Nov 2024, 2:16 a.m.
Panel Version: 0.34
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
leukocyte adhesion deficiency 3 MONDO:0013016
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 607901
- Clinvar variants
- Variants in FERMT3
- Penetrance
- None
- Panels with this gene
History Filter Activity
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: FERMT3 was added gene: FERMT3 was added to Osteopetrosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FERMT3 was set to Unknown