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Skeletal dysplasia
Gene: ASXL1

ASXL1 (additional sex combs like 1, transcriptional regulator)
EnsemblGeneIds (GRCh38): ENSG00000171456
EnsemblGeneIds (GRCh37): ENSG00000171456
OMIM: 612990, Gene2Phenotype
ASXL1 is in 10 panels

5 reviews

Ida Ertmanska (Genomics England Curator)

Comment on phenotypes: OMIM phenotype accessed 3rd Nov 2025.
Created: 3 Nov 2025, 5:17 p.m. | Last Modified: 3 Nov 2025, 5:17 p.m.

Panel Version: 8.21

Created: 3 Nov 2025, 5:17 p.m.
Last Modified: 3 Nov 2025, 5:17 p.m.
Panel version: 8.21

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

trigonocephaly, prominent metopic suture - no other skeletal features. Other craniosynostosis syndromes on this panel -?red/green. Note added by AW - ASXL1 no, features (contractures, joint dislocations) have neurological rather than skeletal basis. Not in Bonafe Am J Med Genet 16 nosology ; Review on behalf of Tracy Lester/Andrew Wilkie
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Bohring-Opitz syndrome 605039

Created: 6 Mar 2019, 11:44 a.m.

Panel version: 1.147

Eleanor Williams (Genomics England Curator)

I don't know

Associated with Bohring-Opitz syndrome #605039 (AD) in OMIM. Clinical features listed include short stature and a number of skeletal features including upper limb rhizomelia.

Genomics England clinical team feel that there are sufficient relevant phenotypes to leave green.
Created: 20 Nov 2019, 11:47 a.m. | Last Modified: 20 Nov 2019, 11:49 a.m.

Panel Version: 1.217

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; Initial rating suggestion: Red List (low evidence)
Created: 6 Mar 2019, 11:36 a.m.

Created: 6 Mar 2019, 11:36 a.m.
Last Modified: 20 Nov 2019, 11:49 a.m.
Panel version: 1.217

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reported
Created: 27 Jul 2016, 1:21 p.m.

Created: 27 Jul 2016, 1:21 p.m.

Panel version: 0.742

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 3
Created: 17 Jun 2016, 8:01 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Bohring-Opitz syndrome 605039; Myelodysplastic syndrome, somatic 614286

Variants in this GENE are reported as part of current diagnostic practice

Created: 17 Jun 2016, 8:01 a.m.

Panel version: 0.4

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

NHS GMS
Expert Review Green
Radboud University Medical Center, Nijmegen
Illumina TruGenome Clinical Sequencing Services
Expert list

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 605039 to Bohring-Opitz syndrome, OMIM:605039; Bohring-Opitz syndrome, MONDO:0011510

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Bohring-Opitz syndrome 605039 for gene: ASXL1

6 Mar 2019, Gel status: 3

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)

9 Aug 2016, Gel status: 4