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  2. Craniosynostosis
  3. ASXL1
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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 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Trigonocephaly in 90%, metopic synostosis frequent.
Sources: Expert list
Created: 2 Jul 2020, 10:34 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Bohring-Opitz syndrome,MIM# 605039

Created: 2 Jul 2020, 10:34 a.m.

Panel version: 0.84

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Bohring-Opitz syndrome,MIM# 605039
OMIM
612990
Clinvar variants
Variants in ASXL1
Penetrance
None
Panels with this gene

History Filter Activity

2 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: asxl1 has been classified as Green List (High Evidence).

2 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: asxl1 has been classified as Green List (High Evidence).

2 Jul 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ASXL1 was added gene: ASXL1 was added to Craniosynostosis. Sources: Expert list 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,MIM# 605039 Review for gene: ASXL1 was set to GREEN