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  2. Sarcoma non-soft tissue
  3. EXT1
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Sarcoma non-soft tissue

Gene: EXT1

Green List (high evidence)
EXT1 (exostosin glycosyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000182197
EnsemblGeneIds (GRCh37): ENSG00000182197
OMIM: 608177, Gene2Phenotype
EXT1 is in 7 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

ClinGen definitive. Non-soft-tissue sarcomas reported in condition.
Sources: Expert list, Expert Review
Created: 17 Sep 2024, 10:39 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Sarcoma, MONDO:0005089; Exostoses, multiple, type 1, MONDO:0007585; Exostoses, multiple, type 1, MIM#133700

Created: 17 Sep 2024, 10:39 p.m.

Panel version: 0.5

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
  • Expert list
Phenotypes
  • Sarcoma, MONDO:0005089
  • Exostoses, multiple, type 1, MONDO:0007585
  • Exostoses, multiple, type 1, MIM#133700
OMIM
608177
Clinvar variants
Variants in EXT1
Penetrance
None
Panels with this gene

History Filter Activity

9 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ext1 has been classified as Green List (High Evidence).

17 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: ext1 has been classified as Green List (High Evidence).

17 Sep 2024, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: EXT1 was added gene: EXT1 was added to Sarcoma non-soft tissue. Sources: Expert list,Expert Review Mode of inheritance for gene: EXT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: EXT1 were set to Sarcoma, MONDO:0005089; Exostoses, multiple, type 1, MONDO:0007585; Exostoses, multiple, type 1, MIM#133700 Review for gene: EXT1 was set to GREEN