Bilateral congenital or childhood onset cataracts
Gene: MAN2A1

MAN2A1 (mannosidase alpha class 2A member 1)
EnsemblGeneIds (GRCh38): ENSG00000112893
EnsemblGeneIds (GRCh37): ENSG00000112893
OMIM: 154582, Gene2Phenotype
MAN2A1 is in 1 panel

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Red List (low evidence)

No evidence for mutations in human cataracts
Created: 25 May 2016, 8:11 a.m.

Mode of inheritance
Unknown

Phenotypes
Homo sapiens mannosidase, alpha, class 2A, member 1 (MAN2A1), mRNA

Variants in this GENE are reported as part of current diagnostic practice

Created: 25 May 2016, 8:11 a.m.

Panel version: 0.124

Ellen McDonagh (Genomics England Curator)

Red List (low evidence)

Comment on list classification: Added to the red list due to expert review.
Created: 31 May 2016, 10:05 a.m.

Gene and phenotype added from the Manchester congenital cataracts gene panel. Not associated with a disease in Gene2Phenotype or OMIM.

Created: 29 Apr 2016, 3:11 p.m.

Created: 29 Apr 2016, 3:11 p.m.

Panel version: 0.9

Details

Mode of Inheritance

Unknown

Sources

Expert Review Red
Expert list

Phenotypes

Homo sapiens mannosidase, alpha, class 2A, member 1 (MAN2A1), mRNA

OMIM

154582

Clinvar variants

Variants in MAN2A1

Penetrance

Complete

Panels with this gene

Bilateral congenital or childhood onset cataracts