Osteogenesis Imperfecta and Osteoporosis
Gene: ALPLEnsemblGeneIds (GRCh38): ENSG00000162551
EnsemblGeneIds (GRCh37): ENSG00000162551
OMIM: 171760, Gene2Phenotype
ALPL is in 19 panels
1 review
Chirag Patel (Genetic Health Queensland)
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). Presentation with fractures and brittle bone disease.Created: 22 Apr 2024, 4:22 a.m. | Last Modified: 22 Apr 2024, 4:22 a.m.
Panel Version: 0.110
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hypophosphatasia, adult 146300 (AD, AR); Hypophosphatasia, childhood 241510 AR; Hypophosphatasia, infantile 241500 AR; Odontohypophosphatasia 146300 AD, AR
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Hypophosphatasia, adult 146300 (AD, AR)
- Hypophosphatasia, childhood 241510 AR
- Hypophosphatasia, infantile 241500 AR
- Odontohypophosphatasia 146300 AD, AR
- Tags
- 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).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ALPL were changed from to Hypophosphatasia, adult 146300 (AD, AR); Hypophosphatasia, childhood 241510 AR; Hypophosphatasia, infantile 241500 AR; Odontohypophosphatasia 146300 AD, AR
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: ALPL were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: ALPL was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag treatable tag was added to gene: ALPL.
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ALPL was added gene: ALPL was added to Osteogenesis imperfecta_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ALPL was set to Unknown