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  3. ANTXR1
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Growth failure

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

GAPO syndrome is the acronymic designation for a complex of growth retardation, alopecia, pseudoanodontia (failure of tooth eruption), and progressive optic atrophy. Optic atrophy is not a consistent feature. At least 10 unrelated families reported.
Sources: Expert Review
Created: 8 Nov 2021, 1:59 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
GAPO syndrome, MIM# 230740

Publications

Created: 8 Nov 2021, 1:59 a.m.

Panel version: 1.17

Details

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

History Filter Activity

8 Nov 2021, 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).

8 Nov 2021, 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).

8 Nov 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ANTXR1 was added gene: ANTXR1 was added to Growth failure. Sources: Expert Review Mode of inheritance for gene: ANTXR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ANTXR1 were set to 23602711; 25045128; 31425299; 30575274; 29436111; 28870703 Phenotypes for gene: ANTXR1 were set to GAPO syndrome, MIM# 230740 Review for gene: ANTXR1 was set to GREEN