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Intellectual disability syndromic and non-syndromic

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Variable severity. Well established gene-disease association.
Created: 13 Apr 2021, 8:59 a.m. | Last Modified: 13 Apr 2021, 8:59 a.m.
Panel Version: 0.3648

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mannosidosis, beta, MIM# 248510; MONDO:0009562

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Mannosidosis, beta, MIM# 248510
  • MONDO:0009562
OMIM
609489
Clinvar variants
Variants in MANBA
Penetrance
None
Panels with this gene

History Filter Activity

13 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

13 Apr 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MANBA were changed from to Mannosidosis, beta, MIM# 248510; MONDO:0009562

13 Apr 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MANBA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MANBA was added gene: MANBA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MANBA was set to Unknown