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| Joubert syndrome and other neurological ciliopathies v0.59 | SCLT1 | Zornitza Stark Marked gene: SCLT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.59 | SCLT1 | Zornitza Stark Gene: sclt1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.59 | SCLT1 | Zornitza Stark Phenotypes for gene: SCLT1 were changed from Orofaciodigital syndrome type IX; Senior-Loken syndrome to Orofaciodigital syndrome type IX; Senior-Loken syndrome; Bardet-Biedl syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.58 | SCLT1 | Zornitza Stark Classified gene: SCLT1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.58 | SCLT1 | Zornitza Stark Gene: sclt1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.57 | SCLT1 | Zornitza Stark reviewed gene: SCLT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Orofaciodigital syndrome type IX, Senior-Loken syndrome, Bardet-Biedl syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.48 | SCLT1 |
Elena Savva gene: SCLT1 was added gene: SCLT1 was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert list Mode of inheritance for gene: SCLT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCLT1 were set to PMID: 24285566; 32253632; 30425282 Phenotypes for gene: SCLT1 were set to Orofaciodigital syndrome type IX; Senior-Loken syndrome Review for gene: SCLT1 was set to AMBER Added comment: PMID: 24285566 - 1 patient with a homozygous splice variant, proven to result in a fs and NMD protein. MRI results show agenesis of corpus callosum and pachygyria - no mention of cerebellar hypoplasia or MTS. Additional features include coloboma and cleft lip/palate PMID: 32253632 - 2 unrelated patients with Bardet-Biedl syndrome. Both patients were chet for the same variants (missense), one found to have splice consequences. Neither patient had polydactyly, but both had ID and renal dysfunction. PMID: 30425282 - 1 patient (chet splice/splice) with Senior Løken syndrome. Patient had renal dysfunction, mild ID but no MRI performed. Authors suggest biallelic null LOF variants are more severe. Summary: no JS patients but a clear relationship to similar ciliopathies. Potentially needs adding to the BBS gene list. Sources: Expert list |
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