GMS Musculoskeletal specialist test group 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

1 review

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, 11:52 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Bohring-Opitz syndrome 605039

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
NHS GMS

Phenotypes

Bohring-Opitz syndrome 605039

OMIM

612990

Clinvar variants

Variants in ASXL1

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: ASXL1 was added gene: ASXL1 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: ASXL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ASXL1 were set to Bohring-Opitz syndrome 605039

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: ASXL1