PanelApp
  1. Genes and Genomic Entities
  2. MANBA

MANBA

mannosidase beta
OMIM: 609489, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green MANBA in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.151

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green MANBA in Mendeliome


Version 1.3512

1 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 1.23

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 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 1.267

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 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 1.410

    		1 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 0.346

    		1 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 0.110

    		0 reviews 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

    		1 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 1.465

    		1 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 2.14

    		1 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 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Mannosidosis, beta, MIM#248510