Arthrogryposis
Gene: ASXL1

ASXL1 (additional sex combs like 1, transcriptional regulator)
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 phenotypes accessed on 3rd Nov 2025.
Created: 3 Nov 2025, 5:15 p.m. | Last Modified: 3 Nov 2025, 5:15 p.m.

Panel Version: 9.12

Created: 3 Nov 2025, 5:15 p.m.
Last Modified: 3 Nov 2025, 5:15 p.m.
Panel version: 9.12

Alice Gardham (Genomics England)

Green List (high evidence)

Comment on list classification: good literature
Created: 9 Jan 2017, 3:49 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Bohring-Opitz syndrome 605039

Publications

21706002

Created: 9 Jan 2017, 3:49 p.m.

Panel version: 1.302

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

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

Phenotypes

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

OMIM

612990

Clinvar variants

Variants in ASXL1

Penetrance

Complete

Publications

21706002

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

16 Jan 2017, Gel status: 4

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

9 Jan 2017, Gel status: 4