EXT1

exostosin glycosyltransferase 1
OMIM: 608177, ClinGen, DECIPHER

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green EXT1 in Congenital Disorders of Glycosylation Level 2: Metabolic disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Exostoses, multiple, type 1 133700 Multiple exostoses type I (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies)
Green EXT1 in Mendeliome Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes hereditary multiple osteochondromas MONDO:0005508 exostoses, multiple, type 1 MONDO:0007585
Green EXT1 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Illumina TruGenome Clinical Sequencing Services UKGTN Radboud University Medical Center, Nijmegen Expert Review Green NHS GMS Expert list Emory Genetics Laboratory Phenotypes trichorhinophalangeal syndrome type 2 -150230 Exostoses, multiple, type 13370 Exostoses, multiple, type 1 133700
Green EXT1 in Additional findings_Paediatric Level 2: Screening Version 1.0	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Exostoses, multiple, type 1
Green EXT1 in Fetal anomalies Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Exostoses, multiple, type 1 133700 Multiple exostoses type I (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies)
Red EXT1 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category A gene Phenotypes Exostoses, multiple, type 1, MIM# 133700
Green EXT1 in Sarcoma non-soft tissue Level 2: Cancer Predisposition Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Expert list Phenotypes Sarcoma, MONDO:0005089 Exostoses, multiple, type 1, MONDO:0007585 Exostoses, multiple, type 1, MIM#133700