EXT2

exostosin glycosyltransferase 2
OMIM: 608210, Gene2Phenotype

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Green EXT2 in Adult solid tumours for rare disease Level 3: Tumour syndromes Level 2: Tumour syndromes Version 1.22	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes Exostoses, multiple, type 2 133701
Green EXT2 in Congenital disorders of glycosylation Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 2.26 Signed off v.2.4 on 4 Mar 2020 Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Literature Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Phenotypes ?Seizures, scoliosis, and macrocephaly syndrome 616682 Exostoses, multiple, type 2 133701 Multiple exostoses type II (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies)
Amber EXT2 in Sarcoma cancer susceptibility Level 3: Pertinent cancer susceptibility gene panel Level 2: Cancer Programme Version 1.15	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Other Phenotypes Exostoses, multiple, type 2
Amber EXT2 in Adult solid tumours cancer susceptibility Level 3: Pertinent cancer susceptibility gene panel Level 2: Cancer Programme Version 2.7 Signed off v.2.2 on 18 Feb 2020	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Amber Other Phenotypes Exostoses, multiple, type 2
Green EXT2 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 2.76 Signed off v.2.2 on 13 Feb 2020 Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Expert list UKGTN Phenotypes Exostoses, multiple, type 2 133701
Green EXT2 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.440	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Multiple exostoses type II (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies) ?Seizures, scoliosis, and macrocephaly syndrome 616682 Exostoses, multiple, type 2 133701 Multiple exostoses type II (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies)
Green EXT2 in Inborn errors of metabolism Version 2.50 Signed off v.2.3 on 17 Feb 2020 Component of the following Super Panels: Hypotonic infant Paediatric disorders White matter disorders - childhood onset	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Multiple exostoses type II (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies) Exostoses, multiple, type 2 133701 ?Seizures, scoliosis, and macrocephaly syndrome 616682
Green EXT2 in Fetal anomalies Version 1.179 Signed off v.1.92 on 21 Aug 2020	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes EXOSTOSES, MULTIPLE, TYPE 2
No list EXT2 in Osteogenesis imperfecta Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 2.10 Signed off v.2.2 on 13 Feb 2020	review	Not set	Sources Expert Review Removed Emory Genetics Laboratory Phenotypes Disproportionate Short Stature
Green EXT2 in DDG2P Version 2.18 Signed off v.2.2 on 13 Feb 2020 Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EXOSTOSES, MULTIPLE, TYPE 2 133701
Amber EXT2 in Genetic epilepsy syndromes Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 2.274 Signed off v.2.2 on 13 Feb 2020	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Seizures, scoliosis, and macrocephaly syndrome, 616682
Amber EXT2 in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 3.740 Signed off v.3.2 on 13 Feb 2020 Component of the following Super Panels: Hypotonic infant Paediatric disorders White matter disorders - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Seizures, scoliosis, and macrocephaly syndrome, 616682 autosomal recessive EXT2-related syndrome Tags for-review
Green EXT2 in Sarcoma susceptibility Version 1.5 Signed off v.1.2 on 18 Feb 2020	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Expert Review Amber Other Phenotypes Exostoses, multiple, type 2
Red EXT2 in Childhood onset dystonia or chorea or related movement disorder Version 1.74 Signed off v.1.58 on 6 Oct 2020	review	Not set	Sources Expert Review Red London North GLH
Green EXT2 in Severe Paediatric Disorders Version 1.43	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Exostoses, multiple, type 2, 133701 Seizures, scoliosis, and macrocephaly syndrome, 616682