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Cataracts

Gene: MAN2A1

Red List (low evidence)

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

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.

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

History Filter Activity

2 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

31 May 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

13 May 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

29 Apr 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

MAN2A1 was added to Cataractspanel. Sources: Expert list

29 Apr 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

MAN2A1 was created by ellenmcdonagh