Likely inborn error of metabolism
Gene: ALPL

ALPL (alkaline phosphatase, liver/bone/kidney)
EnsemblGeneIds (GRCh38): ENSG00000162551
EnsemblGeneIds (GRCh37): ENSG00000162551
OMIM: 171760, Gene2Phenotype
ALPL is in 12 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 16 variants reported in hypophosphatasia, infantile 241500, some of these variants and others were found in childhood and adult Hypophosphatasia and two addtional variants were reported in a case of perinatal lethal hypophosphatasia (PMID 11745997).
Created: 12 Aug 2019, 1:09 p.m. | Last Modified: 12 Aug 2019, 1:13 p.m.

Panel Version: 1.85

Created: 12 Aug 2019, 1:09 p.m.
Last Modified: 12 Aug 2019, 1:13 p.m.
Panel version: 1.83

Details

Mode of Inheritance

BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Sources

Expert Review Green
London North GLH
NHS GMS

Phenotypes

Hypophosphatasia, adult, OMIM:146300
Hypophosphatasia, childhood, OMIM:241510
Hypophosphatasia, infantile, OMIM:241500
Odontohypophosphatasia, OMIM:146300

OMIM

171760

Clinvar variants

Variants in ALPL

Penetrance

None

Publications

Panels with this gene

History Filter Activity

5 Mar 2026, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: ALPL were changed from Hypophosphatasia, adult 146300; Hypophosphatasia, childhood 241510; Hypophosphatasia, infantile241500; Odontohypophosphatasia 146300 to Hypophosphatasia, adult, OMIM:146300; Hypophosphatasia, childhood, OMIM:241510; Hypophosphatasia, infantile, OMIM:241500; Odontohypophosphatasia, OMIM:146300

12 Aug 2019, Gel status: 3