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  2. Congenital disorders of glycosylation
  3. MAN1B1
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Congenital disorders of glycosylation

Gene: MAN1B1

Green List (high evidence)
MAN1B1 (mannosidase alpha class 1B member 1)
EnsemblGeneIds (GRCh38): ENSG00000177239
EnsemblGeneIds (GRCh37): ENSG00000177239
OMIM: 604346, Gene2Phenotype
MAN1B1 is in 7 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least three homozygous variants reported in five families
Created: 19 Dec 2016, 10:22 a.m.
Created: 19 Dec 2016, 10:22 a.m.

Panel version: 0.82

Daniel Ungar (University of York, Department of Biology)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 13 Dec 2016, 11:21 a.m.

Panel version: 0.12

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Mental retardation, autosomal recessive 15 614202
  • MAN1B1-CDG (Disorders of protein N-glycosylation)
OMIM
604346
Clinvar variants
Variants in MAN1B1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

19 Dec 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 19th December 2016

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

19 Dec 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for MAN1B1 were set to 24348268

1 Dec 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

MAN1B1 was added to Congenital disorders of glycosylationpanel. Source: UKGTN

1 Dec 2016, Gel status: 3

Added New Source

Sarah Leigh (Genomics England Curator)

MAN1B1 was added to Congenital disorders of glycosylationpanel. Source: Radboud University Medical Center, Nijmegen

1 Dec 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

MAN1B1 was added to Congenital disorders of glycosylationpanel. Source: Literature

1 Dec 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

MAN1B1 was added to Congenital disorders of glycosylationpanel. Source: Illumina TruGenome Clinical Sequencing Services

1 Dec 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

MAN1B1 was created by sleigh

1 Dec 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

MAN1B1 was added to Congenital disorders of glycosylationpanel. Sources: Emory Genetics Laboratory