Bilateral congenital or childhood onset cataracts
Gene: CDKN2A
CDKN2A (cyclin dependent kinase inhibitor 2A)
EnsemblGeneIds (GRCh38): ENSG00000147889
EnsemblGeneIds (GRCh37): ENSG00000147889
OMIM: 600160, Gene2Phenotype
CDKN2A is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000147889
EnsemblGeneIds (GRCh37): ENSG00000147889
OMIM: 600160, Gene2Phenotype
CDKN2A is in 12 panels
2 reviews
Sarah Waller (Manchester Centre for Genomic Medicine)
Ellen McDonagh (Genomics England Curator)
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.
Details
- Sources
-
- Expert Review Red
- UKGTN
- OMIM
- 600160
- Clinvar variants
- Variants in CDKN2A
- Penetrance
- Complete
- Panels with this gene
-
- Bilateral congenital or childhood onset cataracts
- Adult solid tumours for rare disease
- Familial melanoma
- Multiple monogenic benign skin tumours
- GI tract tumours
- Adult solid tumours cancer susceptibility
- Pigmentary skin disorders
- Cytopenias and congenital anaemias
- Melanoma pertinent cancer susceptibility
- Childhood solid tumours
- Familial tumours of the nervous system
- Inherited pancreatic cancer
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