Skeletal dysplasiaGene: ALPL
Clinical features were early loss of teeth, bowed legs diagnosed as rickets and requiring osteotomy, and beaten-copper appearance of skull x-ray. Variable severity. green - Abnormal mineralization gp of SD. multiple families; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
hypophosphatasia; Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias
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: ALPL; Initial rating suggestion: green
Created: 6 Mar 2019, 11:36 a.m.
Listed as associated with Skeletal Dysplasia by Gene Advisor (June 2016), Steve Abbs
Created: 27 Jul 2016, 9:27 a.m.
Comment when marking as ready: Associated with phenotypes in G2P. Numerous variants reported in these phenotypes.
Created: 13 Jul 2016, 7:34 a.m.
Created: 17 Jun 2016, 8:01 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypophosphatasia, adult 146300; Hypophosphatasia, childhood 241510; Hypophosphatasia, infantile 241500; Odontohypophosphatasia 146300
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes hypophosphatasia; skeletal dysplasias; Osteogenesis Imperfecta and Decreased Bone Density for gene: ALPL
Source NHS GMS was added to ALPL. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
ALPL was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory ALPL was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Green Model of inheritance for gene ALPL was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
ALPL was created by sleigh
ALPL was added to Unexplained skeletal dysplasiapanel. Sources: