1. Panels
  2. Wilms Tumour
  3. ASXL1
STRs in panel
Prev Next
Regions in panel
Prev Next

Wilms Tumour

Gene: ASXL1

Red List (low 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

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

Limited evidence for presentation with Wilms tumour in disease.
Sources: Expert list, Expert Review
Created: 26 Sep 2024, 1:43 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Wilms tumor, MONDO:0006058; Bohring-Opitz syndrome, MONDO:0011510; Bohring-Opitz syndrome, MIM#605039

Created: 26 Sep 2024, 1:43 a.m.

Panel version: 0.35

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert Review
  • Expert list
Phenotypes
  • Wilms tumor, MONDO:0006058
  • Bohring-Opitz syndrome, MONDO:0011510
  • Bohring-Opitz syndrome, MIM#605039
OMIM
612990
Clinvar variants
Variants in ASXL1
Penetrance
None
Panels with this gene

History Filter Activity

9 Oct 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: asxl1 has been classified as Red List (Low Evidence).

26 Sep 2024, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: ASXL1 was added gene: ASXL1 was added to Wilms Tumour. Sources: Expert list,Expert Review Mode of inheritance for gene: ASXL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ASXL1 were set to Wilms tumor, MONDO:0006058; Bohring-Opitz syndrome, MONDO:0011510; Bohring-Opitz syndrome, MIM#605039 Review for gene: ASXL1 was set to RED