| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Leber hereditary optic neuropathy v1.5 | PRICKLE3 | Ivone Leong Classified gene: PRICKLE3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leber hereditary optic neuropathy v1.5 | PRICKLE3 | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark. There is currently not enough evidence to support a gene-disease association so this gene has been given a Red rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leber hereditary optic neuropathy v1.5 | PRICKLE3 | Ivone Leong Gene: prickle3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leber hereditary optic neuropathy v1.4 | PRICKLE3 |
Zornitza Stark gene: PRICKLE3 was added gene: PRICKLE3 was added to Leber hereditary optic neuropathy. Sources: Literature Mode of inheritance for gene: PRICKLE3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PRICKLE3 were set to 32516135 Phenotypes for gene: PRICKLE3 were set to Leber’s hereditary optic neuropathy Review for gene: PRICKLE3 was set to RED Added comment: Reported as X-linked LHON modifier (c.157C>T, p.Arg53Trp) in PRICKLE3 in 3 Chinese families. All affected individuals carried both ND4 11778G>A and p.Arg53Trp variants. Defective assembly, stability, and function of ATP synthase observed using Lymphoblastoid cell lines from one of the families. Propose that the p.Arg53Trp variant acts in synergy with the m.11778G>A variant. Prickle3-deficient mice exhibited pronounced ATPase deficiencies. Sources: Literature |
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