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  2. Corneal Dystrophy
  3. PRDM5
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Corneal Dystrophy

Gene: PRDM5

Green List (high evidence)
PRDM5 (PR/SET domain 5)
EnsemblGeneIds (GRCh38): ENSG00000138738
EnsemblGeneIds (GRCh37): ENSG00000138738
OMIM: 614161, Gene2Phenotype
PRDM5 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Brittle cornea syndrome (BCS) is a connective tissue disorder characterised by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints. More than 3 unrelated families reported.
Created: 6 Jan 2021, 3:07 a.m. | Last Modified: 6 Jan 2021, 3:07 a.m.
Panel Version: 0.60

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Brittle cornea syndrome 2, MIM# 614170

Publications

Created: 6 Jan 2021, 3:07 a.m.
Last Modified: 6 Jan 2021, 3:07 a.m.
Panel version: 0.60

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Brittle cornea syndrome 2, MIM# 614170
OMIM
614161
Clinvar variants
Variants in PRDM5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: prdm5 has been classified as Green List (High Evidence).

6 Jan 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PRDM5 were changed from to Brittle cornea syndrome 2, MIM# 614170

6 Jan 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PRDM5 were set to

6 Jan 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PRDM5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PRDM5 was added gene: PRDM5 was added to Corneal Dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PRDM5 was set to Unknown