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Prepair 1000+

Gene: ANTXR1

Green List (high evidence)
ANTXR1 (anthrax toxin receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000169604
EnsemblGeneIds (GRCh37): ENSG00000169604
OMIM: 606410, Gene2Phenotype
ANTXR1 is in 10 panels

1 review

Lucy Spencer (Victorian Clinical Genetics Services)

Green List (high evidence)

HGNC approved symbol/name: ANTXR1

Is the phenotype(s) severe and onset <18yo ? Y.
Some of the features are not present in all patients including ID, seizures and optic atrophy. But there are many other features associated with this condition ie growth retardation, skeletal features that sounds severe enough to include this gene on the panel. Many case studies described in OMIM which display early onset.

Known technical challenges? N
Created: 19 Jul 2024, 6:45 a.m. | Last Modified: 19 Jul 2024, 6:45 a.m.
Panel Version: 1.9

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
GAPO syndrome (MIM#230740)

Created: 19 Jul 2024, 6:45 a.m.
Last Modified: 19 Jul 2024, 6:45 a.m.
Panel version: 1.9

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • GAPO syndrome (MIM#230740)
OMIM
606410
Clinvar variants
Variants in ANTXR1
Penetrance
None
Panels with this gene

History Filter Activity

25 Jul 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: antxr1 has been classified as Green List (High Evidence).

25 Jul 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ANTXR1 were changed from GAPO syndrome, 230740 (3) to GAPO syndrome (MIM#230740)

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ANTXR1 was added gene: ANTXR1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ANTXR1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ANTXR1 were set to GAPO syndrome, 230740 (3)