Miscellaneous Metabolic Disorders
Gene: ALPL
Inborn error of bone metabolism. Well-established gene-disease association (see OMIM entry).
Sources: NHS GMSCreated: 25 Jan 2021, 4:36 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hypophosphatasia; disorder of bone metabolism
Publications
Variants in this GENE are reported as part of current diagnostic practice
Severe forms of hypophosphatasia (perinatal and infantile) are generally associated with autosomal recessive disease, while the milder forms of hypophosphatasia (childhood, adult and odonto) have been associated with both autosomal dominant and recessive disease (PMID: 19500388, 23688511). Loss of function and dominant negative have both been reported as mechanisms of disease for this gene (ClinVar, PMID: 19500388).Created: 13 May 2020, 1:50 a.m. | Last Modified: 13 May 2020, 1:50 a.m.
Panel Version: 0.2814
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Hypophosphatasia, adult 146300 (AD, AR); Hypophosphatasia, childhood 241510 AR; Hypophosphatasia, infantile 241500 AR; Odontohypophosphatasia 146300 AD, AR
Publications
Mode of pathogenicity
Other
Gene: alpl has been classified as Green List (High Evidence).
Gene: alpl has been classified as Green List (High Evidence).
gene: ALPL was added gene: ALPL was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: ALPL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ALPL were set to 3174660; 1409720 Phenotypes for gene: ALPL were set to Hypophosphatasia; disorder of bone metabolism Review for gene: ALPL was set to GREEN gene: ALPL was marked as current diagnostic