HEXB

hexosaminidase subunit beta
OMIM: 606873, Gene2Phenotype

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Green HEXB in Motor Neurone Disease Level 2: Neurology and neurodevelopmental disorders Version 1.24 Component of the following Super Panels: Neurodegenerative disease - adult onset Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Sandhoff disease, infantile, juvenile, and adult forms MIM#268800
Red HEXB in Hydrops fetalis Level 2: Dysmorphic and congenital abnormality syndromes Version 0.313	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Sandhoff disease, infantile, juvenile, and adult forms, MIM# 268800
Green HEXB in Macrocephaly_Megalencephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.140	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green HEXB in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Sandhoff disease, infantile, juvenile, and adult forms, MIM# 268800 MONDO:0010006
Green HEXB in Lysosomal Storage Disorder Level 2: Metabolic conditions Version 1.11 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Sandhoff disease, infantile, juvenile, and adult forms, MIM# 268800 MONDO:0010006
Green HEXB in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Sandhoff disease, infantile, juvenile, and adult forms, MIM# 268800 MONDO:0010006
Green HEXB in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.556	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green HEXB in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	Unknown	Sources Genetic Health Queensland Expert Review Green
Green HEXB in Ataxia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.26 Component of the following Super Panels: Ataxia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Sandhoff disease, infantile, juvenile, and adult forms, 268800 Sandhoff disease, 268800
Green HEXB in Hereditary Neuropathy - complex Level 2: Neurology and neurodevelopmental disorders Version 1.14 Component of the following Super Panels: Hereditary Neuropathy_CMT_IsolatedAndComplex Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Usually infantile-onset, developmental delay and cognitive decline, visual loss (‘cherry red spot’), motor>sensory neuronopathy, hypometric saccades, adult-onset (second decade) cases described Tay-Sachs disease
Green HEXB 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 Sandhoff disease, infantile, juvenile, and adult forms, 268800 (3)
Green HEXB in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Sandhoff disease, infantile, juvenile, and adult forms
Red HEXB in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Sandhoff disease, infantile, juvenile, and adult forms-MIM#268800
Green HEXB in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Sandhoff disease, infantile, juvenile, and adult forms, 268800 (3)
Red HEXB in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Sandhoff disease, infantile, juvenile, and adult forms, MIM# 268800
Green HEXB in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Sandhoff disease, infantile, juvenile, and adult forms, 268800 (3)