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