MAN2B1

Red MAN2B1 in Hyperammonaemia

Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.13

Sources

• Emory Genetics Laboratory

Green MAN2B1 in Hydrocephalus

Version 2.131
Latest signed off version: v2.3 (2 Mar 2020)

Sources

• NHS GMS
• Expert Review Green
• Illumina TruGenome Clinical Sequencing Services
• Radboud University Medical Center, Nijmegen

Phenotypes

• Mannosidosis, alpha-, types I and II, OMIM:248500

Green MAN2B1 in Lysosomal storage disorder

Version 1.78
Latest signed off version: v1.2 (18 Feb 2020)

Sources

• NHS GMS
• Wessex and West Midlands GLH
• Expert Review Green
• North London GLH

Phenotypes

• Mannosidosis, alpha-, types I and II OMIM:248500
• alpha-mannosidosis MONDO:0009561

Green MAN2B1 in Cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.110
Latest signed off version: v2.76 (5 Aug 2021)

Sources

• Expert Review Green
• UKGTN

Phenotypes

• Mannosidosis alpha- types I and II

No list MAN2B1 in White matter disorders - adult onset

Version 1.43
Latest signed off version: v1.25 (5 Aug 2021)

Sources

• Expert list

Phenotypes

• Mannosidosis, alpha-, types I and II, MIM# 248500

Green MAN2B1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.208
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

Sources

• NHS GMS
• Expert Review Green
• Expert list
• Illumina TruGenome Clinical Sequencing Services
• Radboud University Medical Center, Nijmegen
• UKGTN
• Emory Genetics Laboratory

Phenotypes

• Mannosidosis, alpha-, types I and II 248500

Green MAN2B1 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.542

Sources

• Expert Review Green
• Literature

Phenotypes

• Mannosidosis, alpha-, types I and II 248500

Green MAN2B1 in Inborn errors of metabolism

Version 2.263
Latest signed off version: v2.3 (17 Feb 2020)

Component of the following Super Panels:

Sources

• London North GLH
• NHS GMS
• Expert Review Green

Phenotypes

• Mannosidosis, alpha-, types I and II

Red MAN2B1 in Fetal anomalies

Version 1.880
Latest signed off version: v1.92 (21 Aug 2020)

Sources

• Expert Review Red
• PAGE DD-Gene2Phenotype

Phenotypes

• LYSOSOMAL ALPHA-MANNOSIDOSIS

Green MAN2B1 in DDG2P

Version 2.76
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

Sources

• DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• LYSOSOMAL ALPHA-MANNOSIDOSIS 248500

Green MAN2B1 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.1651
Latest signed off version: v3.2 (13 Feb 2020)

Component of the following Super Panels:

Sources

• Victorian Clinical Genetics Services
• Expert Review Green
• Radboud University Medical Center, Nijmegen

Phenotypes

• Mannosidosis, alpha-, types I and II, 248500
• LYSOSOMAL ALPHA-MANNOSIDOSIS (AM)

Red MAN2B1 in Structural eye disease

Version 1.132
Latest signed off version: v1.3 (4 Mar 2020)

Sources

• NHS GMS

Phenotypes

• Mannosidosis, alpha-, types I and II, 248500

Red MAN2B1 in Childhood onset dystonia or chorea or related movement disorder

Version 1.240
Latest signed off version: v1.137 (5 Aug 2021)

Sources

• Expert Review Red
• London North GLH

Green MAN2B1 in Severe Paediatric Disorders

Version 1.127

Sources

• Next Generation Children Project
• Expert Review Green
• Expert list

Phenotypes

• Mannosidosis, alpha-, types I and II, 248500