Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: ALPL
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
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.
Comment on list classification: Clear evidence of association (though low frequency)Created: 1 Feb 2016, 10:15 a.m.
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
Publications for gene: ALPL were set to 19232125
Source NHS GMS was added to ALPL. Rating Changed from Green List (high evidence) to Green List (high evidence)
Phenotypes for ALPL were set to hypophosphatasia
Publications for ALPL were set to 19232125
Mode of inheritance for ALPL was changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
ALPL was added to Craniosynostosis syndromespanel. Sources: Expert list