Ehlers Danlos syndromes

Gene: PRDM5

Green List (high evidence)

PRDM5 (PR/SET domain 5)
EnsemblGeneIds (GRCh38): ENSG00000138738
EnsemblGeneIds (GRCh37): ENSG00000138738
OMIM: 614161, Gene2Phenotype
PRDM5 is in 7 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

One of the 19 EDS genes recognised by the International EDS Consortium (PMID: 28306229). Homozygous variants identified in at least 7 unrelated confirmed/likely consanguineous brittle cornea syndrome families. The mutation spectrum included stopgain, missense, splice site, and a large deletion.
Sources: Expert list
Created: 1 Jul 2020, 6:19 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Brittle cornea syndrome 2, MIM#614170

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • International EDS Consortium
  • Expert Review Green
Phenotypes
  • Brittle cornea syndrome 2, 614170
OMIM
614161
Clinvar variants
Variants in PRDM5
Penetrance
None
Panels with this gene

History Filter Activity

30 Jun 2020, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Added phenotypes Brittle cornea syndrome 2, 614170 for gene: PRDM5

30 Jun 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: PRDM5 was added gene: PRDM5 was added to Ehlers Danlos syndromes. Sources: Expert Review Green,International EDS Consortium Mode of inheritance for gene: PRDM5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PRDM5 were set to Brittle cornea syndrome 2, 614170