Skeletal dysplasia
Gene: FERMT3
Osteopetrosis and related disorders SD gp - several cases reported; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukocyte adhesion deficiency, type III 612840
Publications
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: FERMT3; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)Created: 21 Jun 2016, 12:48 p.m.
Tier 2Created: 17 Jun 2016, 8:03 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukocyte adhesion deficiency, type III 612840; (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.
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Leukocyte adhesion deficiency, type III 612840 for gene: FERMT3 Publications for gene FERMT3 were changed from to 18709451
Source NHS GMS was added to FERMT3. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Phenotypes for FERMT3 were set to Leukocyte adhesion deficiency, type III 612840; (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.
Mode of inheritance for FERMT3 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
FERMT3 was created by sleigh
FERMT3 was added to Unexplained skeletal dysplasiapanel. Sources: