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  3. MANBA
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Fetal anomalies

Gene: MANBA

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

2 reviews

Rhiannon Mellis (Great Ormond Street Hospital)

I don't know

This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs.

Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH).

Outcome of review: May be fetally relevant but currently limited evidence, support keeping as Amber gene.

Details of review:
Previously reviewed as Amber because only single case report of neonatal onset seizures & development of hydrocephalus; most cases present later.
Diderich et al 2020 (PMID: 33249554) report one fetal case with spina bifida, oligohydramnios and IUGR, but unclear if gene definitely explains phenotype...
Created: 10 Aug 2022, 2:41 p.m. | Last Modified: 10 Aug 2022, 2:41 p.m.
Panel Version: 1.900

Publications

Created: 10 Aug 2022, 2:41 p.m.
Last Modified: 10 Aug 2022, 2:41 p.m.
Panel version: 1.900

Rebecca Foulger (Genomics England curator)

I don't know

This gene was reviewed by Anna de Burca (Genomics England Clinical Team) under the category of storage disorders. Outcome of review: Rate as Amber- Single case report of neonatal onset seizures & development of hydrocephalus; most cases present later.
Created: 25 Jul 2019, 8:04 a.m. | Last Modified: 25 Jul 2019, 8:04 a.m.
Panel Version: 0.311
DDG2P rating in original PAGE list: Confirmed for LYSOSOMAL BETA-MANNOSIDOSIS
Created: 11 Dec 2018, 9:05 a.m.
Created: 11 Dec 2018, 9:05 a.m.

Panel version: 0.311

History Filter Activity

22 Aug 2022, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: MANBA were set to

25 Jul 2019, Gel status: 2

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Amber was added to MANBA. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: MANBA was added gene: MANBA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MANBA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MANBA were set to LYSOSOMAL BETA-MANNOSIDOSIS