Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: ASXL1EnsemblGeneIds (GRCh38): ENSG00000171456
EnsemblGeneIds (GRCh37): ENSG00000171456
OMIM: 612990, Gene2Phenotype
ASXL1 is in 10 panels
6 reviews
Ida Ertmanska (Genomics England Curator)
Comment on phenotypes: OMIM phenotype accessed 3rd Nov 2025.Created: 3 Nov 2025, 5:18 p.m. | Last Modified: 3 Nov 2025, 5:18 p.m.
Panel Version: 6.2
Tracy Lester (Genetics laboratory, Oxford UK)
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
Eleanor Williams (Genomics England Curator)
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.
Louise Daugherty (Genomics England Curator)
Comment on phenotypes: added phenotype from expert reviewCreated: 22 Sep 2017, 8:59 a.m.
Richard Scott (Genomics England Curator)
Comment on list classification: metopic synostosis frequently associated with Bohring-Opitz syndromeCreated: 1 Feb 2016, 10:21 a.m.
Andrew Wilkie (University of Oxford)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Green
- Expert list
- Phenotypes
-
- Bohring-Opitz syndrome, OMIM:605039
- Bohring-Opitz syndrome, MONDO:0011510
- OMIM
- 612990
- Clinvar variants
- Variants in ASXL1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Ida Ertmanska (Genomics England Curator)Phenotypes for gene: ASXL1 were changed from Bohring-Opitz syndrome, 605039; Metopic synostosis frequently associated with Bohring-Opitz syndrome to Bohring-Opitz syndrome, OMIM:605039; Bohring-Opitz syndrome, MONDO:0011510
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to ASXL1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for ASXL1 were set to Bohring-Opitz syndrome, 605039; Metopic synostosis frequently associated with Bohring-Opitz syndrome
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for ASXL1 were set to Bohring-Opitz syndrome; Metopic synostosis frequently associated with Bohring-Opitz syndrome
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Richard Scott (Genomics England Curator)Publications for ASXL1 were set to 21706002
Set Mode of Inheritance
Richard Scott (Genomics England Curator)Mode of inheritance for ASXL1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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)ASXL1 was added to Craniosynostosis syndromespanel. Sources: Expert list