B3GLCT

beta 3-glucosyltransferase
OMIM: 610308, Gene2Phenotype

18 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 18 panels
Green B3GLCT in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 0.230	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Peters-plus syndrome-MIM#261540
Green B3GLCT in Anophthalmia_Microphthalmia_Coloboma Level 2: Ophthalmological disorders Version 1.43	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Peters-plus syndrome, MIM#261540
Green B3GLCT in Eye Anterior Segment Abnormalities Level 2: Ophthalmological disorders Version 1.13	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Peters-plus syndrome, MIM# 261540
Green B3GLCT in Cataract Level 2: Ophthalmological disorders Version 0.373	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green B3GLCT in Congenital Disorders of Glycosylation Level 2: Metabolic disorders Version 1.60 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Peters-plus syndrome (MIM# 261540)
Green B3GLCT in Hydrocephalus_Ventriculomegaly Level 2: Neurology and neurodevelopmental disorders Version 0.127	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green B3GLCT in Mendeliome Version 1.2374	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Peters-plus syndrome, MIM#261540
Green B3GLCT in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.540	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green B3GLCT in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.83	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Peters Plus Syndrome (MIM 261540) Peters anomaly Growth retardation Brachydactyly ID
Green B3GLCT in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.305	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert Review Victorian Clinical Genetics Services Phenotypes Peters-plus syndrome 261540 O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Green B3GLCT in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Peters-plus syndrome, 261540 (3)
Green B3GLCT in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Peters-Plus syndrome
Green B3GLCT in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.260	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes PETERS-PLUS SYNDROME
Green B3GLCT in Hand and foot malformations Level 2: Dysmorphic and congenital abnormality syndromes Version 0.76 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Peters-plus syndrome 261540
Green B3GLCT in Fetal anomalies Version 1.314	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Expert list Phenotypes Peters-plus syndrome, MIM#261540
Green B3GLCT in Prepair 1000+ Level 2: Screening Version 1.1586	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Peters-plus syndrome, MIM# 261540
Red B3GLCT in BabyScreen+ newborn screening Level 2: Screening Version 1.116	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Peters-plus syndrome, MIM#261540
Green B3GLCT in Prepair 500+ Level 2: Screening Version 1.5	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Peters-plus syndrome, 261540 (3)