Osteogenesis imperfecta
Gene: ALPL
This gene was part of an initial gene list collated by Duncan Baker, Sheffield Diagnostic Genetics Service, January 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: ALPL; Suggested initial gene rating: greenCreated: 3 Apr 2019, 4:08 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Comment on list classification: Promoted to green due to 2 expert reviews and confirmed DDD gene associated with HypophosphatasiaCreated: 10 May 2016, 12:23 p.m.
Biochemical features required to confirm diagnosisCreated: 6 Oct 2015, 10:56 a.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Hypophosphatasia
Publications
Variants in this GENE are reported as part of current diagnostic practice
Source NHS GMS was added to ALPL. Rating Changed from Green List (high evidence) to Green List (high evidence)
Phenotypes for ALPL were set to Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias; Hypophosphatasia
Publications for ALPL were set to 10737975
This gene has been classified as Green List (High Evidence).
Mode of inheritance for ALPL was changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
ALPL was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory