EXTL3

exostosin like glycosyltransferase 3
OMIM: 605744, ClinGen, DECIPHER

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green EXTL3 in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Immunoskeletal dysplasia with neurodevelopmental abnormalities - MIM#617425
Green EXTL3 in Congenital Disorders of Glycosylation Level 2: Metabolic disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM# 617425
Green EXTL3 in Mendeliome Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM# 617425
Green EXTL3 in Combined Immunodeficiency Level 2: Immunological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM# 617425
Green EXTL3 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM# 617425
Green EXTL3 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature NHS GMS Victorian Clinical Genetics Services Phenotypes Immunoskeletal dysplasia with neurodevelopmental abnormalities 617425 Immunoskeletal dysplasia with neurodevelopmental abnormalities 617425
Green EXTL3 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Immunoskeletal dysplasia with neurodevelopmental abnormalities, 617425 (3), Autosomal recessive
Green EXTL3 in Fetal anomalies Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM# 617425
Green EXTL3 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM#617425