Clefting
Gene: ASXL1
ASXL1 (additional sex combs like 1, transcriptional regulator)
EnsemblGeneIds (GRCh38): ENSG00000171456
EnsemblGeneIds (GRCh37): ENSG00000171456
OMIM: 612990, Gene2Phenotype
ASXL1 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000171456
EnsemblGeneIds (GRCh37): ENSG00000171456
OMIM: 612990, Gene2Phenotype
ASXL1 is in 10 panels
2 reviews
Ida Ertmanska (Genomics England Curator)
Comment on phenotypes: OMIM phenotype accessed 3rd Nov 2025.Created: 3 Nov 2025, 5:19 p.m. | Last Modified: 3 Nov 2025, 5:19 p.m.
Panel Version: 6.14
Helen Brittain (Genomics England Curator)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
BOHRING-OPITZ SYNDROME; BOPS
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Phenotypes
-
- Bohring-Opitz syndrome, OMIM:605039
- Bohring-Opitz syndrome, MONDO:0011510
- OMIM
- 612990
- Clinvar variants
- Variants in ASXL1
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
3 Nov 2025, Gel status: 3
Set Phenotypes
Ida Ertmanska (Genomics England Curator)Phenotypes for gene: ASXL1 were changed from BOHRING-OPITZ SYNDROME; BOPS to Bohring-Opitz syndrome, OMIM:605039; Bohring-Opitz syndrome, MONDO:0011510
31 May 2017, Gel status: 4
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
26 May 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)ASXL1 was created by ellenmcdonagh
26 May 2017, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)ASXL1 was added to Cleftingpanel. Sources: Expert Review Green