EXT1:Ensemblv90

exostosin glycosyltransferase 1
OMIM: 608177, ClinGen, DECIPHER

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green EXT1 in Congenital Disorders of Glycosylation Level 2: Metabolic disorders Version 1.80 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	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 1.3802	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 0.365	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
Red EXT1 in CGC_86 Version 0.3	0 reviews	Other	Sources CGC_86 Phenotypes Chondrosarcoma
Red EXT1 in NCGC Version 0.3	0 reviews	Other	Sources NCGC Phenotypes Chondrosarcoma
Red EXT1 in TCGA_PANCAN_2018 Version 0.3	0 reviews	Other	Sources TCGA_PANCAN_2018 Phenotypes Chondrosarcoma
Green EXT1 in Sarcoma Level 2: Cancer susceptibility Version 0.4	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green SA Pathology
Green EXT1 in Additional findings_Paediatric Level 2: Screening Version 0.278	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 1.482	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 1.141	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 Congenital Disorders of Glycosylation Level 2: Metabolic disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Exostoses, multiple, type 1 133700 Multiple exostoses type I (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies)
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 Emory Genetics Laboratory Expert list NHS GMS Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes trichorhinophalangeal syndrome type 2 -150230 Exostoses, multiple, type 13370 Exostoses, multiple, type 1 133700
Red EXT1 in TCGA_PANCAN_2018 Version 1.0	0 reviews	Other	Sources TCGA_PANCAN_2018 Phenotypes Chondrosarcoma
Green EXT1 in Sarcoma Level 2: Cancer susceptibility Version 1.0	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources SA Pathology Expert Review Green