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  2. Anophthalmia_Microphthalmia_Coloboma
  3. ASXL1
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Anophthalmia_Microphthalmia_Coloboma

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)

Colobomas reported.
Created: 24 Dec 2020, 5:45 a.m. | Last Modified: 24 Dec 2020, 5:45 a.m.
Panel Version: 0.81

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Bohring-Opitz syndrome , MIM#605039

Publications

Created: 24 Dec 2020, 5:45 a.m.
Last Modified: 24 Dec 2020, 5:45 a.m.
Panel version: 0.81

Details

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

History Filter Activity

24 Dec 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).

24 Dec 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ASXL1 were changed from to Bohring-Opitz syndrome , MIM#605039

24 Dec 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ASXL1 were set to

24 Dec 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ASXL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ASXL1 was added gene: ASXL1 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ASXL1 was set to Unknown