Activity
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6 actions
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| Albinism or congenital nystagmus v4.6 | CACNB3 |
Achchuthan Shanmugasundram changed review comment from: PMID:41822111 (2026) reported three affected individuals from a two-generation consanguineous Lebanese family of eight members with idiopathic infantile nystagmus. All three affected individuals carried the same homozygous CACNB3 variant (c.316G>C; p.Gly106Arg), fully segregating across 8 family members. There is also functional evidence available for the p.Gly106Arg variant. This gene has not yet been associated with any phenotypes in OMIM (last accessed 11 May 2026), Gene2Phenotype or ClinGen.; to: PMID:41822111 (2026) reported three affected individuals from a two-generation consanguineous Lebanese family of eight members with idiopathic infantile nystagmus. All three affected individuals carried the same homozygous CACNB3 variant (c.316G>C; p.Gly106Arg), fully segregating across 8 family members. There is also functional evidence available for the p.Gly106Arg variant. There are no other cases reported so far in the peer-reviewed literature. This gene has not yet been associated with any phenotypes in OMIM (last accessed 11 May 2026), Gene2Phenotype or ClinGen. |
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| Albinism or congenital nystagmus v4.6 | CACNB3 | Achchuthan Shanmugasundram Classified gene: CACNB3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v4.6 | CACNB3 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is one affected family and functional evidence available in support of the association of biallelic CACNB3 variants with infantile nystagmus. Hence, this gene should be added with amber rating on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v4.6 | CACNB3 | Achchuthan Shanmugasundram Gene: cacnb3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v4.5 | CACNB3 | Achchuthan Shanmugasundram reviewed gene: CACNB3: Rating: AMBER; Mode of pathogenicity: None; Publications: 41822111; Phenotypes: Infantile nystagmus; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v4.5 | CACNB3 |
Mervyn Thomas gene: CACNB3 was added gene: CACNB3 was added to Albinism or congenital nystagmus. Sources: Literature Mode of inheritance for gene: CACNB3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CACNB3 were set to 41822111 Phenotypes for gene: CACNB3 were set to infantile nystagmus Penetrance for gene: CACNB3 were set to Complete Review for gene: CACNB3 was set to GREEN Added comment: Recent evidence suggests this gene can be involved in infantile nystagmus please see publication - https://pubmed.ncbi.nlm.nih.gov/41822111/ Sources: Literature |
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