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Arthrogryposis

Gene: ANTXR2

Green List (high evidence)

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

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

Can present with congenital contractures -see Genereview
Created: 5 Jan 2017, 1:54 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyaline fibromatosis syndrome 228600

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Hyaline fibromatosis syndrome 228600
OMIM
608041
Clinvar variants
Variants in ANTXR2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

16 Jan 2017, Gel status: 4

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

5 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

5 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

5 Jan 2017, Gel status: 2

Added New Source

Alice Gardham (Genomics England)

ANTXR2 was added to Arthrogryposispanel. Sources: Literature,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen

5 Jan 2017, Gel status: 0

Created

Alice Gardham (Genomics England)

ANTXR2 was created by agardham