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  2. Congenital Disorders of Glycosylation
  3. MAN1B1
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Congenital Disorders of Glycosylation

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mental retardation, autosomal recessive 15, MIM#614202

Created: 6 Mar 2020, 7:54 a.m.
Last Modified: 6 Mar 2020, 7:54 a.m.
Panel version: 0.38

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, autosomal recessive 15, MIM#614202
OMIM
604346
Clinvar variants
Variants in MAN1B1
Penetrance
None
Panels with this gene

History Filter Activity

6 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: man1b1 has been classified as Green List (High Evidence).

6 Mar 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MAN1B1 were changed from to Mental retardation, autosomal recessive 15, MIM#614202

6 Mar 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MAN1B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MAN1B1 was added gene: MAN1B1 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MAN1B1 was set to Unknown