Miscellaneous Metabolic Disorders

Gene: ALPL

Green List (high evidence)

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

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

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

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

Melanie Marty (Victorian Clinical Genetics Services)

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

Mode of pathogenicity
Other

History Filter Activity

25 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: alpl has been classified as Green List (High Evidence).

25 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: alpl has been classified as Green List (High Evidence).

25 Jan 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

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