MANBA

mannosidase beta
OMIM: 609489, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green MANBA in Macrocephaly_Megalencephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.149	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green MANBA in Mendeliome Version 1.2374	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mannosidosis, beta, MIM# 248510 MONDO:0009562 Nystagmus, autosomal dominant
Green MANBA in Lysosomal Storage Disorder Level 2: Metabolic conditions Version 1.13 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, beta, MIM# 248510 MONDO:0009562
Amber MANBA in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.119 Component of the following Super Panels: Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Mannosidosis, beta, MIM#248510
Green MANBA 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 Mannosidosis, beta, MIM# 248510 MONDO:0009562
Amber MANBA 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 Amber NHS GMS Victorian Clinical Genetics Services Phenotypes Beta-mannosidosis, 248510
Green MANBA 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, beta, 248510 (3)
Amber MANBA in Congenital nystagmus Level 2: Ophthalmological disorders Version 1.22	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genomics England PanelApp NHS Genomic Medicine Service Phenotypes Nystagmus, autosomal dominant
Red MANBA in Fetal anomalies Version 1.314	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Genetic Health Queensland Phenotypes Mannosidosis, beta, MIM# 248510 MONDO:0009562
Green MANBA in Prepair 1000+ Level 2: Screening Version 1.1586	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mannosidosis, beta, MIM#248510
Green MANBA in Prepair 500+ Level 2: Screening Version 1.5	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mannosidosis, beta, 248510 (3)