Skeletal dysplasia
Gene: ASXL1
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 WilkieCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Bohring-Opitz syndrome 605039
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.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reportedCreated: 27 Jul 2016, 1:21 p.m.
Tier 3Created: 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
Added phenotypes Bohring-Opitz syndrome 605039 for gene: ASXL1
Source NHS GMS was added to ASXL1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for ASXL1 were set to Bohring-Opitz syndrome 605039
Mode of inheritance for ASXL1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
ASXL1 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
ASXL1 was added to Unexplained skeletal dysplasiapanel. Sources:
ASXL1 was created by sleigh