MAN2B1

mannosidase alpha class 2B member 1
OMIM: 609458, Gene2Phenotype

18 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 18 panels
Green MAN2B1 in Cataract Level 2: Ophthalmological disorders Version 0.366	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green MAN2B1 in Craniosynostosis Level 2: Dysmorphic and congenital abnormality syndromes Version 1.68	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Mannosidosis, alpha-, types I and II, MIM# 248500
Green MAN2B1 in Hydrocephalus_Ventriculomegaly Level 2: Neurology and neurodevelopmental disorders Version 0.123	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Red MAN2B1 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 Mannosidosis, alpha-, types I and II, MIM# 248500
Green MAN2B1 in Macrocephaly_Megalencephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.140	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green MAN2B1 in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mannosidosis, alpha-, types I and II, MIM# 248500 MONDO:0009561 Tags treatable
Green MAN2B1 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 Mannosidosis, alpha-, types I and II, MIM# 248500 MONDO:0009561 Tags treatable
Green MAN2B1 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.556	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mannosidosis, alpha-, types I and II, MIM# 248500 MONDO:0009561 Tags treatable
Green MAN2B1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Mannosidosis, alpha-, types I and II, MIM# 248500 MONDO:0009561 Tags treatable
Green MAN2B1 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Radboud University Medical Center, Nijmegen Expert Review Green NHS GMS Expert list Emory Genetics Laboratory Victorian Clinical Genetics Services Phenotypes Mannosidosis, alpha-, types I and II 248500
Green MAN2B1 in Leukodystrophy - adult onset Level 2: Neurology and neurodevelopmental disorders Version 0.140 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Mannosidosis, alpha-, types I and II, MIM#248500
Green MAN2B1 in Rhabdomyolysis and Metabolic Myopathy Level 2: Neurology and neurodevelopmental disorders Version 1.6 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Phenotypes Alpha-mannosidosis MONDO:0009561
Green MAN2B1 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 Mannosidosis, alpha-, types I and II, 248500 (3)
Green MAN2B1 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Mannosidosis, alpha
Red MAN2B1 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Genetic Health Queensland Phenotypes Mannosidosis, alpha-, types I and II, MIM# 248500 MONDO:0009561
Green MAN2B1 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mannosidosis, alpha-, types I and II, 248500 (3)
Green MAN2B1 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene Phenotypes Mannosidosis, alpha-, types I and II, MIM# 248500 Tags treatable metabolic
Green MAN2B1 in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mannosidosis, alpha-, types I and II, 248500 (3)