Craniosynostosis

Gene: ASXL1

Green List (high evidence)

ASXL1 (additional sex combs like 1, transcriptional regulator)
EnsemblGeneIds (GRCh38): ENSG00000171456
EnsemblGeneIds (GRCh37): ENSG00000171456
OMIM: 612990, Gene2Phenotype
ASXL1 is in 9 panels

5 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Trigonocephaly in 90%, Metopic synostosis frequent ; Review on behalf of Tracy Lester/Andrew Wilkie
Created: 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)

I don't know

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: green
Created: 5 Mar 2019, 11:21 a.m.

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: added phenotype from expert review
Created: 22 Sep 2017, 8:59 a.m.

Richard Scott (Genomics England Curator)

Comment on list classification: metopic synostosis frequently associated with Bohring-Opitz syndrome
Created: 1 Feb 2016, 10:21 a.m.

Andrew Wilkie (University of Oxford)

Green List (high evidence)

metopic synostosis frequently associated
Created: 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, 605039
  • Metopic synostosis frequently associated with Bohring-Opitz syndrome
OMIM
612990
Clinvar variants
Variants in ASXL1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

5 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)

22 Sep 2017, Gel status: 4

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

22 Sep 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for ASXL1 were set to Bohring-Opitz syndrome; Metopic synostosis frequently associated with Bohring-Opitz syndrome

1 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Feb 2016, Gel status: 4

Set publications

Richard Scott (Genomics England Curator)

Publications for ASXL1 were set to 21706002

1 Feb 2016, Gel status: 4

Set Mode of Inheritance

Richard Scott (Genomics England Curator)

Mode of inheritance for ASXL1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

1 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

27 Jul 2015, Gel status: 0

Added New Source

Eik Haraldsdottir (Genomics England)

ASXL1 was added to Craniosynostosis syndromespanel. Sources: Expert list