Retinal disorders
Gene: POC5EnsemblGeneIds (GRCh38): ENSG00000152359
EnsemblGeneIds (GRCh37): ENSG00000152359
POC5 is in 6 panels
4 reviews
Eleanor Williams (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 11 Mar 2026, 1:02 p.m. | Last Modified: 11 Mar 2026, 1:02 p.m.
Panel Version: 8.97
Arina Puzriakova (Genomics England Curator)
Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update.
Total of 12 families reported in PMID:40590205 and PMID:29272404 with biallelic LOF variants in the POC5 gene presenting with retinal dystrophy (11/12), diabetes mellitus (10/12), lipodystrophy (6/12), kidney disease (7/12), and muscle cramps (8/12). Ten different variants identified with two variants found in multiple unrelated families from different ethnic and geographic backgrounds. Aberrant localization of POC5 at the basal body of the cilium, provides evidence that the described syndrome is a ciliopathy. Supportive zebrafish knockdown model.Created: 4 Aug 2025, 9:43 a.m. | Last Modified: 3 Sep 2025, 9:43 a.m.
Panel Version: 8.23
Siying Lin (Moorfields Eye Hospital)
PMID 40590205: 12 families with bi-allelic LoF POC5 variants (including additional phenotype information for the family initially reported in PMID 29272404) - retinal dystrophy was a clinicl feature in 11/12 affected individuals, supporting this gene as a cause of syndromic retinal dystrophyCreated: 2 Jul 2025, 8 a.m. | Last Modified: 2 Jul 2025, 8 a.m.
Panel Version: 8.6
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinal dystrophy; diabetes mellitus; lipodystrophy; renal failure; abnormal muscle physiology
Publications
Mode of pathogenicity
Other
Ivone Leong (Genomics England Curator)
Submitted on behalf of the GMS Eye specialist group. These genes are also from RetNet. There is currently not enough evidence to rate these genes Green, therefore they have been given an Amber rating.Created: 27 Dec 2019, 9:10 a.m. | Last Modified: 27 Dec 2019, 9:10 a.m.
Panel Version: 2.5
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- RetNet
- Phenotypes
-
- Retinal dystrophy
- diabetes mellitus
- lipodystrophy
- renal failure
- abnormal muscle physiology
- Tags
- Clinvar variants
- Variants in POC5
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag gene-checked tag was added to gene: POC5.
Removed Tag, Removed Tag
Eleanor Williams (Genomics England Curator)Tag Q3_25_promote_green was removed from gene: POC5. Tag Q3_25_NHS_review was removed from gene: POC5.
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Green was added to POC5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: poc5 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: POC5 were changed from to Retinal dystrophy; diabetes mellitus; lipodystrophy; renal failure; abnormal muscle physiology
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: POC5 were set to
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: POC5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added Tag, Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q3_25_promote_green tag was added to gene: POC5. Tag Q3_25_NHS_review tag was added to gene: POC5.
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: POC5 was added gene: POC5 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: POC5 was set to