Osteogenesis imperfecta
Gene: ALPLEnsemblGeneIds (GRCh38): ENSG00000162551
EnsemblGeneIds (GRCh37): ENSG00000162551
OMIM: 171760, Gene2Phenotype
ALPL is in 12 panels
6 reviews
Duncan Baker (Sheffield Genetics)
Eleanor Williams (Genomics England Curator)
This gene was part of an initial gene list collated by Duncan Baker, Sheffield Diagnostic Genetics Service, January 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: ALPL; Suggested initial gene rating: greenCreated: 3 Apr 2019, 4:08 p.m.
Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Raymond Dalgleish (University of Leicester)
Chris Boustred (Genomics England)
Comment on list classification: Promoted to green due to 2 expert reviews and confirmed DDD gene associated with HypophosphatasiaCreated: 10 May 2016, 12:23 p.m.
Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)
Biochemical features required to confirm diagnosisCreated: 6 Oct 2015, 10:56 a.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Hypophosphatasia
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Emory Genetics Laboratory
- Phenotypes
-
- Osteogenesis Imperfecta and Decreased Bone Density
- skeletal dysplasias
- Hypophosphatasia
- OMIM
- 171760
- Clinvar variants
- Variants in ALPL
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- DDG2P
- Early onset or syndromic epilepsy
- Skeletal dysplasia
- Fetal anomalies
- Undiagnosed metabolic disorders
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Osteogenesis imperfecta
- Hypophosphataemia or rickets
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Amelogenesis imperfecta
History Filter Activity
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to ALPL. Rating Changed from Green List (high evidence) to Green List (high evidence)
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for ALPL were set to Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias; Hypophosphatasia
Set publications
Louise Daugherty (Genomics England Curator)Publications for ALPL were set to 10737975
Gene classified by Genomics England curator
Chris Boustred (Genomics England)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Chris Boustred (Genomics England)Mode of inheritance for ALPL was changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Gene classified by Genomics England curator
Chris Boustred (Genomics England)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)ALPL was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory