Fetal anomalies
Gene: ALPL

ALPL (alkaline phosphatase, liver/bone/kidney)
EnsemblGeneIds (GRCh38): ENSG00000162551
EnsemblGeneIds (GRCh37): ENSG00000162551
OMIM: 171760, Gene2Phenotype
ALPL is in 19 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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: 14 May 2020, 2:53 a.m. | Last Modified: 14 May 2020, 2:53 a.m.

Panel Version: 0.18

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypophosphatasia, infantile MIM# 241500

Publications

Created: 14 May 2020, 2:53 a.m.
Last Modified: 14 May 2020, 2:53 a.m.
Panel version: Imported from Skeletal Dysplasia_Fetal panel version 0.18

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Genomics England PanelApp
Victorian Clinical Genetics Services
Melbourne Genomics Health Alliance Perinatal Autopsy Flagship

Phenotypes

Hypophosphatasia, infantile MIM# 241500

OMIM

171760

Clinvar variants

Variants in ALPL

Penetrance

None

Publications

Panels with this gene