ANTXR2:Ensemblv90

anthrax toxin receptor 2
OMIM: 608041, ClinGen, DECIPHER

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Green ANTXR2 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 1.1 Component of the following Super Panels: Neuromuscular Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyaline fibromatosis syndrome, MIM# 228600 MONDO:0009229
Green ANTXR2 in Mendeliome Version 1.3802	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyaline fibromatosis syndrome, MIM# 228600 MONDO:0009229
Green ANTXR2 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.365	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Expert Review Green Radboud University Medical Center, Nijmegen NHS GMS Expert list Victorian Clinical Genetics Services Phenotypes Hyaline fibromatosis syndrome 228600
Green ANTXR2 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.111	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hyaline fibromatosis syndrome, 228600 (3)
Green ANTXR2 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Hyaline fibromatosis syndrome
Green ANTXR2 in Fetal anomalies Version 1.482	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Hyaline fibromatosis syndrome, MIM# 228600 MONDO:0009229
Green ANTXR2 in Prepair 1000+ Level 2: Screening Version 2.15	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hyaline fibromatosis syndrome, MIM# 228600 MONDO:0009229
Red ANTXR2 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Hyaline fibromatosis syndrome, MIM# 228600 MONDO:0009229
Green ANTXR2 in Facial papules Level 2: Dermatological disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes hyaline fibromatosis syndrome MONDO:0009229
Green ANTXR2 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Hyaline fibromatosis syndrome, MIM# 228600 MONDO:0009229
Green ANTXR2 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert list NHS GMS Radboud University Medical Center, Nijmegen Expert Review Green UKGTN Illumina TruGenome Clinical Sequencing Services Expert Review Green Phenotypes Hyaline fibromatosis syndrome 228600
Green ANTXR2 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Hyaline fibromatosis syndrome, 228600 (3)
Green ANTXR2 in Additional findings_Paediatric Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene Phenotypes Hyaline fibromatosis syndrome
Green ANTXR2 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Hyaline fibromatosis syndrome, MIM# 228600 MONDO:0009229
Green ANTXR2 in Facial papules Level 2: Dermatological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Phenotypes hyaline fibromatosis syndrome MONDO:0009229