Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: ALPLEnsemblGeneIds (GRCh38): ENSG00000162551
EnsemblGeneIds (GRCh37): ENSG00000162551
OMIM: 171760, Gene2Phenotype
ALPL is in 12 panels
4 reviews
Tracy Lester (Genetics laboratory, Oxford UK)
CSS is prevalent in infants with HPP and in knockout mice. Collmann et al report 7 children (6 families) with CSS and variants in TNSALP (ALPL). 1) Paternally inherited non-penetrant missense. 2-7) Comp het missense. Probably AR. ; Review on behalf of Tracy Lester/Andrew WilkieCreated: 5 Mar 2019, 11:33 a.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Hypophosphatasia
Publications
- 19232125
- Collmann et al 2009 Childs Nerve Syst 25:217-223.
Eleanor Williams (Genomics England Curator)
Comment on publications: Collmann et al is PMID:18769927Created: 11 May 2019, 10:30 a.m.
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: ALPL; Suggested initial gene rating: greenCreated: 5 Mar 2019, 11:21 a.m.
Richard Scott (Genomics England Curator)
Comment on list classification: Clear evidence of association (though low frequency)Created: 1 Feb 2016, 10:15 a.m.
Andrew Wilkie (University of Oxford)
craniosynostosis is a recognised but low frequency complicationCreated: 14 Sep 2015, 12:15 p.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
hypophosphatasia
Publications
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
- Expert list
- Phenotypes
-
- 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
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: ALPL were set to 19232125
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
Richard Scott (Genomics England Curator)Phenotypes for ALPL were set to hypophosphatasia
Set publications
Richard Scott (Genomics England Curator)Publications for ALPL were set to 19232125
Set Mode of Inheritance
Richard Scott (Genomics England Curator)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
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Eik Haraldsdottir (Genomics England)ALPL was added to Craniosynostosis syndromespanel. Sources: Expert list