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Inborn errors of metabolism

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 14 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 7 variants reported in numerous cases.
Created: 17 Jan 2017, 9:47 a.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)
Created: 6 Jan 2017, 1:58 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Unexplained skeletal dysplasia

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 MAN2B1. Source London North GLH was added to MAN2B1.

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

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

Ellen McDonagh (Genomics England Curator)

gene: MAN2B1 was added gene: MAN2B1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAN2B1 were set to 27604308 Phenotypes for gene: MAN2B1 were set to Mannosidosis, alpha-, types I and II