Hydrocephalus
Gene: MAN2B1EnsemblGeneIds (GRCh38): ENSG00000104774
EnsemblGeneIds (GRCh37): ENSG00000104774
OMIM: 609458, Gene2Phenotype
MAN2B1 is in 15 panels
2 reviews
Louise Daugherty (Genomics England Curator)
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene GreenCreated: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34
Helen Brittain (Genomics England Curator)
Comment on list classification: Discussed with Richard Scott - considered an appropriate phenotype for inclusion given macrocephalyCreated: 22 May 2017, 2:57 p.m.
Many patients identified with biallelic mutations. Mixture of truncation and missense. One recurrent missense R750W mutation.
Spectrum of disease with multi-system involvement. Macrocephaly a common feature, not hydrocephalus. Some patients onset in early - mid childhood after period of normal development.Created: 27 Apr 2017, 1:45 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mannosidosis, alpha-, types I and II 248500
Publications
Details
- Mode of Inheritance
- 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
- OMIM
- 609458
- Clinvar variants
- Variants in MAN2B1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- DDG2P
- Intellectual disability
- Adult onset leukodystrophy
- Hyperammonaemia
- Bilateral congenital or childhood onset cataracts
- Retinal disorders
- Likely inborn error of metabolism
- Hydrocephalus
- Structural eye disease
- Fetal anomalies
- Undiagnosed metabolic disorders
- Skeletal dysplasia
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Lysosomal storage disorder
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: MAN2B1 were changed from Mannosidosis, alpha-, types I and II 248500 to Mannosidosis, alpha-, types I and II, OMIM:248500
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to MAN2B1.
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)31.05.2017 - panel revised after internal curation and clinical review.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Helen Brittain (Genomics England Curator)Phenotypes for MAN2B1 were set to Mannosidosis, alpha-, types I and II 248500
Set publications
Helen Brittain (Genomics England Curator)Publications for MAN2B1 were set to 9915946
Set Mode of Inheritance
Helen Brittain (Genomics England Curator)Mode of inheritance for MAN2B1 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance, Added New Source
Olivia Niblock (Genomics England Curator)MAN2B1 was added to Hydrocephaluspanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene MAN2B1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Olivia Niblock (Genomics England Curator)MAN2B1 was added to Hydrocephaluspanel. Sources: Radboud University Medical Center, Nijmegen
Created
Olivia Niblock (Genomics England Curator)MAN2B1 was created by oniblock