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Inborn errors of metabolism

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 6 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • MAN1B1-CDG (Disorders of protein N-glycosylation)
  • Mental retardation, autosomal recessive 15 614202
OMIM
604346
Clinvar variants
Variants in MAN1B1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to MAN1B1. Source London North GLH was added to MAN1B1.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes MAN1B1-CDG (Disorders of protein N-glycosylation); Mental retardation, autosomal recessive 15 614202 for gene: MAN1B1 Publications for gene MAN1B1 were changed from 24348268 to 27604308

16 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: MAN1B1 was added gene: MAN1B1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MAN1B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAN1B1 were set to 24348268 Phenotypes for gene: MAN1B1 were set to MAN1B1-CDG (Disorders of protein N-glycosylation); Mental retardation, autosomal recessive 15 614202