Corneal dystrophies

Gene: PRDM5

Green List (high evidence)

PRDM5 (PR/SET domain 5)
EnsemblGeneIds (GRCh38): ENSG00000138738
EnsemblGeneIds (GRCh37): ENSG00000138738
OMIM: 614161, Gene2Phenotype
PRDM5 is in 4 panels

1 review

Morag Shanks (Oxford Medical Genetics laboratory)

Green List (high evidence)

Manchester - corenal abnormalities panel
Created: 1 Apr 2019, 2:30 p.m.

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • Brittle cornea syndrome 614170
OMIM
614161
Clinvar variants
Variants in PRDM5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: PRDM5 was added gene: PRDM5 was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green Mode of inheritance for gene: PRDM5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRDM5 were set to 22122778; 21664999 Phenotypes for gene: PRDM5 were set to Brittle cornea syndrome 614170