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Albinism or congenital nystagmus

Gene: CACNB3

Amber List (moderate evidence)
CACNB3 (calcium voltage-gated channel auxiliary subunit beta 3)
EnsemblGeneIds (GRCh38): ENSG00000167535
EnsemblGeneIds (GRCh37): ENSG00000167535
OMIM: 601958, Gene2Phenotype
CACNB3 is in 1 panel

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

I don't know

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.
Created: 11 May 2026, 4:54 p.m. | Last Modified: 11 May 2026, 4:54 p.m.
Panel Version: 4.6
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.
Created: 11 May 2026, 4:53 p.m. | Last Modified: 11 May 2026, 4:56 p.m.
Panel Version: 4.6

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Infantile nystagmus

Publications

Created: 11 May 2026, 4:53 p.m.
Last Modified: 11 May 2026, 4:56 p.m.
Panel version: 4.5

Mervyn Thomas (University of Leicester)

Green List (high evidence)

Recent evidence suggests this gene can be involved in infantile nystagmus please see publication - https://pubmed.ncbi.nlm.nih.gov/41822111/
Sources: Literature
Created: 28 Apr 2026, 12:44 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
infantile nystagmus

Publications

Created: 28 Apr 2026, 12:44 p.m.

Panel version: 4.5

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • infantile nystagmus
OMIM
601958
Clinvar variants
Variants in CACNB3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

11 May 2026, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: cacnb3 has been classified as Amber List (Moderate Evidence).

28 Apr 2026, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Mervyn Thomas (University of Leicester)

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