B4GALNT1

beta-1,4-N-acetyl-galactosaminyltransferase 1
OMIM: 601873, ClinGen, DECIPHER

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green B4GALNT1 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 Spastic paraplegia 26, autosomal recessive (MIM #609195)
Amber B4GALNT1 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Spastic paraplegia 26, autosomal recessive, MIM#609195
Green B4GALNT1 in Mendeliome Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 26, autosomal recessive (MIM #609195)
Green B4GALNT1 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 Spastic paraplegia 26, autosomal recessive (MIM #609195)
Green B4GALNT1 in Hereditary Spastic Paraplegia Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spastic paraplegia 26, autosomal recessive MIM#609195
Amber B4GALNT1 in Hereditary Neuropathy Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Spastic paraplegia 26, autosomal recessive (MIM#609195 MONDO:0012213)
Green B4GALNT1 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 Spastic paraplegia 26, autosomal recessive, 609195 (3)
Green B4GALNT1 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Spastic paraplegia 26, MIM# 609195