Renal Ciliopathies and Nephronophthisis
Gene: POC1BEnsemblGeneIds (GRCh38): ENSG00000139323
EnsemblGeneIds (GRCh37): ENSG00000139323
OMIM: 614784, Gene2Phenotype
POC1B is in 6 panels
3 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Comment when marking as ready: Mostly ocular phenotype consistent with ciliopathy, insufficient reports to support association with JS/brain phenotypes.Created: 14 May 2020, 6:49 a.m. | Last Modified: 14 May 2020, 6:49 a.m.
Panel Version: 0.57
Elena Savva (Victorian Clinical Genetics Services)
PMID: 25044745 - 1 homozygous family (missense) with leber congenital amaurosis, JS and polycystic kidney disease. 13 healthy relatives were wildtype or heterozygous carriers only.
MRI shows MTS, cerebellar vermis hypoplasia and malorientated cerebellar peduncles.
Null zebrafish model had cystic kidney and retinal degeneration - no mention of JS features.
PMID: 31390656 - 7 families (8 patients) either chet (PTC/missense) or homozygous (missense) with retinopathies. No mention of JS-related phenotypes eg. polydactyly, brain malformation, intellectual disability
PMID: 25018096 - 1 homozygous family (missense) with cone rod dystrophy. No mention of JS-related phenotypes eg. polydactyly, brain malformation, intellectual disability
Summary: single example of JS, doesnt seem to correlate with a particular genotype
Sources: Expert listCreated: 13 May 2020, 4:42 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cone-rod dystrophy 20 615973
Publications
Chirag Patel (Genetic Health Queensland)
No renal phenotype reported in this ciliopathyCreated: 3 Jan 2020, 4:36 a.m. | Last Modified: 3 Jan 2020, 4:36 a.m.
Panel Version: 0.51
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Expert list
- Expert Review Red
- KidGen_CilioNephronop v38.1.0
- Phenotypes
-
- Cone-rod dystrophy 20, MIM#615973
- OMIM
- 614784
- Clinvar variants
- Variants in POC1B
- Penetrance
- None
- Panels with this gene
History Filter Activity
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: POC1B was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: poc1b has been classified as Red List (Low Evidence).
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: POC1B was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: POC1B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: POC1B were changed from to Cone-rod dystrophy 20, MIM#615973
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: poc1b has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: POC1B was added gene: POC1B was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0 Mode of inheritance for gene: POC1B was set to Unknown