Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: ASXL1
Trigonocephaly in 90%, Metopic synostosis frequent ; Review on behalf of Tracy Lester/Andrew WilkieCreated: 5 Mar 2019, 11:33 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Bohring-Opitz syndrome, 605039
Publications
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: ASXL1; Suggested initial gene rating: greenCreated: 5 Mar 2019, 11:21 a.m.
Comment on phenotypes: added phenotype from expert reviewCreated: 22 Sep 2017, 8:59 a.m.
Comment on list classification: metopic synostosis frequently associated with Bohring-Opitz syndromeCreated: 1 Feb 2016, 10:21 a.m.
metopic synostosis frequently associatedCreated: 14 Sep 2015, 12:38 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Bohring-Opitz syndrome
Publications
Source NHS GMS was added to ASXL1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Phenotypes for ASXL1 were set to Bohring-Opitz syndrome, 605039; Metopic synostosis frequently associated with Bohring-Opitz syndrome
Phenotypes for ASXL1 were set to Bohring-Opitz syndrome; Metopic synostosis frequently associated with Bohring-Opitz syndrome
This gene has been classified as Green List (High Evidence).
Publications for ASXL1 were set to 21706002
Mode of inheritance for ASXL1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
ASXL1 was added to Craniosynostosis syndromespanel. Sources: Expert list