Retinal disorders
Gene: POC1B
POC1B (POC1 centriolar protein B)
EnsemblGeneIds (GRCh38): ENSG00000139323
EnsemblGeneIds (GRCh37): ENSG00000139323
OMIM: 614784, Gene2Phenotype
POC1B is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000139323
EnsemblGeneIds (GRCh37): ENSG00000139323
OMIM: 614784, Gene2Phenotype
POC1B is in 7 panels
2 reviews
Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)
Ivone Leong (Genomics England Curator)
Comment on list classification: Promoted from red to green. POC1B is associated with a phenotype in OMIM and Gene2Phenotype. There are 3 unrelated cases of patients with cone-rod dystrophy who have variants in POC1B gene. Therefore, there is enough evidence to promote this gene to green status.Created: 2 Apr 2019, 4 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Cone-rod dystrophy 20, 615973
- OMIM
- 614784
- Clinvar variants
- Variants in POC1B
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
3 Apr 2019, Gel status: 3
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source NHS GMS was added to POC1B. Rating Changed from Green List (high evidence) to Green List (high evidence)
2 Apr 2019, Gel status: 3
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: poc1b has been classified as Green List (High Evidence).
2 Apr 2019, Gel status: 1
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: POC1B were set to
2 Apr 2019, Gel status: 1
Set mode of inheritance
Ivone Leong (Genomics England Curator)Mode of inheritance for gene: POC1B was changed from to BIALLELIC, autosomal or pseudoautosomal
9 Mar 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)POC1B was added to Posterior segment abnormalitiespanel. Sources: Expert Review Red
9 Mar 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)POC1B was created by ellenmcdonagh