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| Joubert syndrome and other neurological ciliopathies v0.72 | ZSWIM6 | Zornitza Stark Marked gene: ZSWIM6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.72 | ZSWIM6 | Zornitza Stark Added comment: Comment when marking as ready: Not entirely clear at this stage whether this is a ciliopathy. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.72 | ZSWIM6 | Zornitza Stark Gene: zswim6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.72 | ZSWIM6 | Zornitza Stark Phenotypes for gene: ZSWIM6 were changed from Acromelic frontonasal dysostosis (MIM#603671) to Acromelic frontonasal dysostosis (MIM#603671); Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, MIM#617865 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.71 | ZSWIM6 | Zornitza Stark Classified gene: ZSWIM6 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.71 | ZSWIM6 | Zornitza Stark Gene: zswim6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.70 | ZSWIM6 |
Crystle Lee gene: ZSWIM6 was added gene: ZSWIM6 was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert Review Mode of inheritance for gene: ZSWIM6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ZSWIM6 were set to 25105228; 28213462; 29198722 Phenotypes for gene: ZSWIM6 were set to Acromelic frontonasal dysostosis (MIM#603671) Review for gene: ZSWIM6 was set to AMBER Added comment: There are some phenotypic overlap, primarily skeletal abnormalities. PMID: 25105228: 4 pts with AFND (Arg1163Trp) PMID: 28213462; AFND caused by this gene was classified as "Likely ciliopathy" PMID: 29198722; Reported 7 unrelated individuals with a recurrent truncating variant. This patients were "Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features". No functional studies performed but postulated to be dominant-negative. Sources: Expert Review |
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