Rhabdomyolysis and metabolic muscle disorders
Gene: POC5EnsemblGeneIds (GRCh38): ENSG00000152359
EnsemblGeneIds (GRCh37): ENSG00000152359
POC5 is in 6 panels
2 reviews
Eleanor Williams (Genomics England Curator)
The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.Created: 11 Mar 2026, 5:10 p.m. | Last Modified: 11 Mar 2026, 5:10 p.m.
Panel Version: 5.16
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. Although rhabdomyolysis was only considered in one patient (P5 in PMID: 40590205), debilitating muscle pain/cramps (triggered by exercise and sometimes accompanied by elevated serum CK) represent a notable feature of the disorder which is best captured by this panel.
This disorder is relevant to the R381 Other rare neuromuscular disorders super panel, which will be applied through inclusion on this panel.Created: 3 Sep 2025, 9:52 a.m. | Last Modified: 3 Sep 2025, 9:58 a.m.
Panel Version: 5.9
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 neuromuscular abnormalities (10/12) primarily comprising intermittent, involuntary painful muscle cramps (8/12). Muscle cramps arose in childhood and were often disabling and difficult to treat. Elevated serum CK levels were noted in 4 individuals.
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.
Sources: LiteratureCreated: 3 Sep 2025, 9:43 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinal dystrophy; diabetes mellitus; lipodystrophy; renal failure; abnormal muscle physiology; muscle cramps
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Literature
- Phenotypes
-
- Retinal dystrophy
- diabetes mellitus
- lipodystrophy
- renal failure
- abnormal muscle physiology
- muscle cramps
- Tags
- Clinvar variants
- Variants in POC5
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag, Added Tag
Arina Puzriakova (Genomics England Curator)Tag dd_review was removed from gene: POC5. Tag gene-checked tag was added to gene: POC5.
Removed Tag
Eleanor Williams (Genomics England Curator)Tag Q3_25_promote_green was removed from gene: POC5.
Added New Source, Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to POC5. 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).
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: POC5 was added gene: POC5 was added to Rhabdomyolysis and metabolic muscle disorders. Sources: Literature dd_review, Q3_25_promote_green tags were added to gene: POC5. Mode of inheritance for gene: POC5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POC5 were set to 29272404; 40590205 Phenotypes for gene: POC5 were set to Retinal dystrophy; diabetes mellitus; lipodystrophy; renal failure; abnormal muscle physiology; muscle cramps Review for gene: POC5 was set to GREEN