Hydrocephalus

Gene: MAN2B1

Green List (high evidence)

MAN2B1 (mannosidase alpha class 2B member 1)
EnsemblGeneIds (GRCh38): ENSG00000104774
EnsemblGeneIds (GRCh37): ENSG00000104774
OMIM: 609458, Gene2Phenotype
MAN2B1 is in 11 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

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 Green
Created: 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)

I don't know

Comment on list classification: Discussed with Richard Scott - considered an appropriate phenotype for inclusion given macrocephaly
Created: 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 248500
OMIM
609458
Clinvar variants
Variants in MAN2B1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to MAN2B1.

31 May 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

31.05.2017 - panel revised after internal curation and clinical review.

22 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

22 May 2017, Gel status: 4

Set Phenotypes

Helen Brittain (Genomics England Curator)

Phenotypes for MAN2B1 were set to Mannosidosis, alpha-, types I and II 248500

22 May 2017, Gel status: 4

Set publications

Helen Brittain (Genomics England Curator)

Publications for MAN2B1 were set to 9915946

22 May 2017, Gel status: 4

Set Mode of Inheritance

Helen Brittain (Genomics England Curator)

Mode of inheritance for MAN2B1 was changed to BIALLELIC, autosomal or pseudoautosomal

22 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Dec 2016, Gel status: 2

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

9 Dec 2016, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

MAN2B1 was added to Hydrocephaluspanel. Sources: Radboud University Medical Center, Nijmegen

9 Dec 2016, Gel status: 0

Created

Olivia Niblock (Genomics England Curator)

MAN2B1 was created by oniblock