Aortopathy_Connective Tissue Disorders
Gene: PRDM5EnsemblGeneIds (GRCh38): ENSG00000138738
EnsemblGeneIds (GRCh37): ENSG00000138738
OMIM: 614161, Gene2Phenotype
PRDM5 is in 6 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
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 listCreated: 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
- Phenotypes
-
- Brittle cornea syndrome 2, MIM#614170
- OMIM
- 614161
- Clinvar variants
- Variants in PRDM5
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: prdm5 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: prdm5 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: PRDM5 was added gene: PRDM5 was added to Aortopathy_Connective Tissue Disorders. Sources: Expert list Mode of inheritance for gene: PRDM5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRDM5 were set to 28306229; 21664999 Phenotypes for gene: PRDM5 were set to Brittle cornea syndrome 2, MIM#614170 Review for gene: PRDM5 was set to GREEN