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Bilateral congenital or childhood onset cataracts

Gene: CDKN2A

Red List (low evidence)

CDKN2A (cyclin dependent kinase inhibitor 2A)
EnsemblGeneIds (GRCh38): ENSG00000147889
EnsemblGeneIds (GRCh37): ENSG00000147889
OMIM: 600160, Gene2Phenotype
CDKN2A is in 11 panels

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Red List (low evidence)

Ellen McDonagh (Genomics England Curator)

Red List (low evidence)

Not on the Manchester congenital cataracts gene panel. Associated with Melanoma and neural system tumor syndrome, Orolaryngeal cancer, multiple, Pancreatic cancer/melanoma syndrome and {Melanoma, cutaneous malignant, 2} in OMIM.
Created: 29 Apr 2016, 9:44 a.m.

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).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

CDKN2A was added to Cataractspanel. Sources: UKGTN