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Fetal anomalies

Gene: ANTXR2

Amber List (moderate evidence)

ANTXR2 (anthrax toxin receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000163297
EnsemblGeneIds (GRCh37): ENSG00000163297
OMIM: 608041, Gene2Phenotype
ANTXR2 is in 5 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

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

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

Rebecca Foulger (Genomics England curator)

I don't know

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE Additional Gene List
Phenotypes
  • Hyaline fibromatosis syndrome 228600
Tags
for-review
OMIM
608041
Clinvar variants
Variants in ANTXR2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Feb 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: ANTXR2 were set to

1 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: antxr2 has been classified as Amber List (Moderate Evidence).

1 Feb 2021, Gel status: 1

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: ANTXR2.

8 Nov 2018, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: ANTXR2 was added gene: ANTXR2 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red Mode of inheritance for gene: ANTXR2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ANTXR2 were set to Hyaline fibromatosis syndrome 228600