Renal Tubulopathies and related disorders
Gene: ALPLEnsemblGeneIds (GRCh38): ENSG00000162551
EnsemblGeneIds (GRCh37): ENSG00000162551
OMIM: 171760, Gene2Phenotype
ALPL is in 19 panels
4 reviews
Chirag Patel (Genetic Health Queensland)
Well established association with spectrum of disease severity.
Sources: Expert listCreated: 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)
Inborn error of bone metabolism. Well-established gene-disease association (see OMIM entry).
Sources: NHS GMSCreated: 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)
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)
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
-
- Miscellaneous Metabolic Disorders
- Mackenzie's Mission_Reproductive Carrier Screening
- Calcium and Phosphate disorders
- Prepair 1000+
- BabyScreen+ newborn screening
- Transplant Co-Morbidity Superpanel
- Genetic Epilepsy
- Early-onset Parkinson disease
- Neurotransmitter Defects
- Craniosynostosis
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Skeletal Dysplasia_Fetal
- Osteogenesis Imperfecta and Osteoporosis
- Mendeliome
- Renal Tubulopathies and related disorders
- Prepair 500+
- Vitamin metabolism disorders
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: alpl has been classified as Green List (High Evidence).
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