Syndromic Retinopathy
Gene: POC5EnsemblGeneIds (GRCh38): ENSG00000152359
EnsemblGeneIds (GRCh37): ENSG00000152359
POC5 is in 2 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
One case with a homozygous truncating variant and a supporting zebrafish model.Created: 24 Mar 2020, 5:55 a.m. | Last Modified: 24 Mar 2020, 5:55 a.m.
Panel Version: 0.5
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
retinitis pigmentosa; short stature; microcephaly; recurrent glomerulonephritis
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- RetNet
- Phenotypes
-
- retinitis pigmentosa
- short stature
- microcephaly
- recurrent glomerulonephritis
- Clinvar variants
- Variants in POC5
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)Phenotypes for gene: POC5 were changed from to retinitis pigmentosa; short stature; microcephaly; recurrent glomerulonephritis
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: POC5 were set to
Set mode of inheritance
Bryony Thompson (Royal Melbourne Hospital)Mode of inheritance for gene: POC5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: poc5 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: poc5 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance
Bryony Thompson (Royal Melbourne Hospital)gene: POC5 was added gene: POC5 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet Mode of inheritance for gene: POC5 was set to Unknown