Genetic Epilepsy

Gene: ALPL

Green List (high evidence)

Inborn error of bone metabolism. Well-established gene-disease association (see OMIM entry).
Sources: NHS GMS

Created: 25 Jan 2021, 4:36 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Hypophosphatasia; disorder of bone metabolism

Publications

• 3174660
• 1409720

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

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

• 19500388
• 23688511

Mode of pathogenicity
Other