Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.57 | POC1B | Zornitza Stark Marked gene: POC1B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.57 | POC1B | Zornitza Stark Added comment: Comment when marking as ready: Mostly ocular phenotype consistent with ciliopathy, insufficient reports to support association with JS/brain phenotypes. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.57 | POC1B | Zornitza Stark Gene: poc1b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.57 | POC1B | Zornitza Stark Classified gene: POC1B as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.57 | POC1B | Zornitza Stark Gene: poc1b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.48 | POC1B |
Elena Savva gene: POC1B was added gene: POC1B was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert list Mode of inheritance for gene: POC1B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POC1B were set to PMID: 25044745; 31390656; 25018096 Phenotypes for gene: POC1B were set to Cone-rod dystrophy 20 615973 Review for gene: POC1B was set to RED Added comment: 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 list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||