| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Joubert syndrome and other neurological ciliopathies v1.11 | KIAA0753 | Zornitza Stark Phenotypes for gene: KIAA0753 were changed from ?Orofaciodigital syndrome XV 617127; Joubert syndrome to ?Orofaciodigital syndrome XV 617127; Joubert syndrome 38, MIM# 619476 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.56 | KIAA0753 | Zornitza Stark Marked gene: KIAA0753 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.56 | KIAA0753 | Zornitza Stark Added comment: Comment when marking as ready: Sufficient number of families with neurological features consistent with ciliopathy/JS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.56 | KIAA0753 | Zornitza Stark Gene: kiaa0753 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.56 | KIAA0753 | Zornitza Stark Classified gene: KIAA0753 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.56 | KIAA0753 | Zornitza Stark Gene: kiaa0753 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.48 | KIAA0753 |
Elena Savva gene: KIAA0753 was added gene: KIAA0753 was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert list Mode of inheritance for gene: KIAA0753 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIAA0753 were set to PMID: 31816441; 28220259; 29138412; 26643951 Phenotypes for gene: KIAA0753 were set to ?Orofaciodigital syndrome XV 617127; Joubert syndrome Review for gene: KIAA0753 was set to GREEN Added comment: PMID: 31816441 - 1 patient with a homozygous PTC. No MTS on MRI at 8 months old, clearly stated by authors. Patient had a skeletal dysplasia. Authors summerize reports, no obvious genotype-phenotype correlation. PMID: 28220259 - 2 chet (missense/inframe del) siblings with JS. Both siblings showed the MTS on MRI, one also had additional hypoplasia of cerebellar vermis. Functional studies on patient cells demonstrated significantly less cilia. PMID: 29138412 - All patients had brachydactyly. Patient 1 and 2 (cousins) - showed MTS on MRI, inferior vermis dysplasia. Patients had a homozygous PTC. Patient 3 - no MTS, but described as having brain features consistent with JS. Patient 4 - vermis dysplasia, no mention of MTS. Not regarded as having JS, diagnosed with short-rib thoracic dyplasia. Patient was chet for two PTCs. Zebrafish null models have skeletal abnormalities, no mention of brain analysis/abnormalities PMID: 26643951 - 1 chet patient (PTC/splice causing fs) with OFD syndrome. MRI shows MTS and vermis hypoplasia Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||