Early-onset Parkinson disease
Gene: ALPLEnsemblGeneIds (GRCh38): ENSG00000162551
EnsemblGeneIds (GRCh37): ENSG00000162551
OMIM: 171760, Gene2Phenotype
ALPL is in 19 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Single case report, may reflect coincidence. Note severe infantile form has neurological manifestations, though not typically movement disorders.Created: 26 Jul 2022, 1:56 a.m. | Last Modified: 26 Jul 2022, 1:56 a.m.
Panel Version: 0.216
Phenotypes
Hypophosphatasia, adult, MIM# 146300
SHEKEEB MOHAMMAD (Children's Hospital at Westmead)
Sources: LiteratureCreated: 22 Jul 2022, 6:33 a.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Hypophosphatasia; Osteomalacia; Parkinsonism; OMIM 146300
Publications
- PMID: 32956941
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Hypophosphatasia, adult, MIM# 146300
- Osteomalacia
- Parkinsonism
- OMIM
- 171760
- Clinvar variants
- Variants in ALPL
- Penetrance
- None
- Publications
-
- PMID: 32956941
- 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 Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ALPL were changed from Hypophosphatasia; Osteomalacia; Parkinsonism; OMIM 146300 to Hypophosphatasia, adult, MIM# 146300; Osteomalacia; Parkinsonism
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: alpl has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
SHEKEEB MOHAMMAD (Children's Hospital at Westmead)gene: ALPL was added gene: ALPL was added to Early-onset Parkinson disease. Sources: Literature 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 PMID: 32956941 Phenotypes for gene: ALPL were set to Hypophosphatasia; Osteomalacia; Parkinsonism; OMIM 146300 Review for gene: ALPL was set to GREEN