B3GALNT2

beta-1,3-N-acetylgalactosaminyltransferase 2
OMIM: 610194, ClinGen, DECIPHER

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green B3GALNT2 in Lissencephaly and Band Heterotopia Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Brain Malformations Flagship Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181
Red B3GALNT2 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181
Green B3GALNT2 in Congenital Disorders of Glycosylation Level 2: Metabolic disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181 MONDO:0014071
Green B3GALNT2 in Cerebellar and Pontocerebellar Hypoplasia Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 615181
Green B3GALNT2 in Hydrocephalus_Ventriculomegaly Level 2: Neurology and neurodevelopmental disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181 MONDO:0014071
Green B3GALNT2 in Mendeliome Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181 MONDO:0014071
Green B3GALNT2 in Muscular dystrophy and myopathy_Paediatric Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181 MONDO:0014071
Green B3GALNT2 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11 MIM#615181
Green B3GALNT2 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 1.0	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green B3GALNT2 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 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181 MONDO:0014071
Green B3GALNT2 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 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, 615181 (3)
Green B3GALNT2 in Fetal anomalies Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181 MONDO:0014071
Green B3GALNT2 in Prepair 1000+ Level 2: Screening Version 3.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, 615181 (3)