MAN2B1

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

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Red MAN2B1 in Hyperammonaemia Level 3: Urea Cycle disorders Level 2: Metabolic disorders Version 1.22	review	Not set	Sources Emory Genetics Laboratory
Green MAN2B1 in Hydrocephalus Level 2: Neurology Version 5.12 Latest signed off version: v5.0 (7 Aug 2024)	review	BIALLELIC, autosomal or pseudoautosomal	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 Level 2: Metabolic Version 3.5 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	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 Bilateral congenital or childhood onset cataracts Level 2: Ophthalmology Version 7.8 Latest signed off version: v7.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Phenotypes Mannosidosis alpha- types I and II
Red MAN2B1 in Adult onset leukodystrophy Level 2: Neurology Version 6.10 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Mannosidosis, alpha-, types I and II, OMIM:248500
Green MAN2B1 in Skeletal dysplasia Level 2: Musculoskeletal Version 8.38 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Radboud University Medical Center, Nijmegen Expert list UKGTN Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Mannosidosis, alpha-, types I and II 248500
Green MAN2B1 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.643	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mannosidosis, alpha-, types I and II 248500
Green MAN2B1 in Likely inborn error of metabolism Level 2: Metabolic Version 8.100 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mannosidosis, alpha-, types I and II
Red MAN2B1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.172 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes LYSOSOMAL ALPHA-MANNOSIDOSIS
Green MAN2B1 in Rare syndromic craniosynostosis or isolated multisuture synostosis Level 2: Musculoskeletal Version 6.4 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Mannosidosis, alpha-, types I and II, OMIM:248500
Green MAN2B1 in DDG2P Version 6.438 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LYSOSOMAL ALPHA-MANNOSIDOSIS 248500
Green MAN2B1 in Intellectual disability Level 2: Developmental disorders Version 9.331 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	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)
Green MAN2B1 in Retinal disorders Level 2: Ophthalmology Version 8.99 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Mannosidosis, alpha-, types I and II, OMIM:248500 alpha-mannosidosis, MONDO:0009561
Red MAN2B1 in Structural eye disease Level 2: Ophthalmology Version 4.40 Latest signed off version: v4.0 (7 Aug 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Phenotypes Mannosidosis, alpha-, types I and II, 248500
Red MAN2B1 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.18 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH