Renal Tubulopathies and related 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

4 reviews

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Well established association with spectrum of disease severity.
Sources: Expert list
Created: 28 Nov 2022, 6:08 a.m.

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

Phenotypes
Hypophosphatasia, infantile, OMIM #241500; Hypophosphatasia, childhood, OMIM #241510; Hypophosphatasia, adult, OMIM # 146300; Odontohypophosphatasia, OMIM #146300

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Fractures, poor mineralisation, rachitic rosary.
Created: 8 Aug 2020, 3:14 a.m. | Last Modified: 8 Aug 2020, 3:14 a.m.
Panel Version: 0.8

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypophosphatasia, infantile, MIM# 241500

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

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert list
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypophosphatasia, childhood, OMIM #241510
  • Odontohypophosphatasia, OMIM #146300
  • Hypophosphatasia, adult, OMIM # 146300
  • Hypophosphatasia, infantile, OMIM #241500
OMIM
171760
Clinvar variants
Variants in ALPL
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Dec 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

1 Dec 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ALPL was added gene: ALPL was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green Mode of inheritance for gene: ALPL was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: ALPL were set to 23688511; 19500388 Phenotypes for gene: ALPL were set to Hypophosphatasia, childhood, OMIM #241510; Odontohypophosphatasia, OMIM #146300; Hypophosphatasia, adult, OMIM # 146300; Hypophosphatasia, infantile, OMIM #241500