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Inborn errors of metabolism

Gene: MANBA

Green List (high evidence)

MANBA (mannosidase beta)
EnsemblGeneIds (GRCh38): ENSG00000109323
EnsemblGeneIds (GRCh37): ENSG00000109323
OMIM: 609489, Gene2Phenotype
MANBA is in 11 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 9 variants reported in 6 unrelated cases.
Created: 24 Jul 2019, 4:40 p.m. | Last Modified: 24 Jul 2019, 4:40 p.m.
Panel Version: 1.66

History Filter Activity

24 Jul 2019, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: MANBA were changed from Mannosidosis, beta to Mannosidosis, beta 248510

24 Jul 2019, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: manba has been classified as Green List (High Evidence).

13 Feb 2019, Gel status: 2

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

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

8 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

16 Dec 2018, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

gene: MANBA was added gene: MANBA was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: MANBA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MANBA were set to 27604308 Phenotypes for gene: MANBA were set to Mannosidosis, beta