Skeletal Dysplasia_Fetal
Gene: ALPLEnsemblGeneIds (GRCh38): ENSG00000162551
EnsemblGeneIds (GRCh37): ENSG00000162551
OMIM: 171760, Gene2Phenotype
ALPL is in 19 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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).
The severe infantile form is perinatal lethal.Created: 14 May 2020, 2:53 a.m. | Last Modified: 16 Sep 2022, 7:19 a.m.
Panel Version: 0.84
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypophosphatasia, infantile MIM# 241500
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
- Phenotypes
-
- Hypophosphatasia, infantile MIM# 241500
- 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
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag treatable tag was added to gene: ALPL.
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, infantile MIM# 241500
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 BIALLELIC, autosomal or pseudoautosomal
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 Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ALPL was set to Unknown