Fetal anomalies
Gene: ANTXR2

ANTXR2 (anthrax toxin receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000163297
EnsemblGeneIds (GRCh37): ENSG00000163297
OMIM: 608041, Gene2Phenotype
ANTXR2 is in 4 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 3 Mar 2022, 11:19 a.m. | Last Modified: 3 Mar 2022, 11:19 a.m.

Panel Version: 1.836

Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene has been upgraded from Red to Amber, but should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Created: 1 Feb 2021, 11:06 a.m. | Last Modified: 1 Feb 2021, 11:06 a.m.

Panel Version: 1.319

Created: 1 Feb 2021, 11:06 a.m.
Last Modified: 1 Feb 2021, 11:06 a.m.
Panel version: 1.836

Rhiannon Mellis (Great Ormond Street Hospital)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Skeletal dysplasia; Arthrogryposis

Additional comment: Causes contractures. The most severe form described as having onset “at birth” or first few months of life. No reported cases with prenatal phenotype that I can see in literature but some with contractures at birth so conceivably detectable prenatally.
PMIDs: 30176098; 14508707; 20301698
Created: 29 Jan 2021, 12:33 p.m. | Last Modified: 29 Jan 2021, 12:33 p.m.

Panel Version: 1.229

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyaline fibromatosis syndrome, 228600

Publications

Created: 29 Jan 2021, 12:33 p.m.
Last Modified: 29 Jan 2021, 12:33 p.m.
Panel version: 1.229

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Possible.
Created: 11 Dec 2018, 9:04 a.m.

Created: 11 Dec 2018, 9:04 a.m.

Panel version: 0.9

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
PAGE Additional Gene List

Phenotypes

Hyaline fibromatosis syndrome 228600

OMIM

608041

Clinvar variants

Variants in ANTXR2

Penetrance

None

Publications

Panels with this gene