Leber hereditary optic neuropathy
Gene: PRICKLE3

PRICKLE3 (prickle planar cell polarity protein 3)
EnsemblGeneIds (GRCh38): ENSG00000012211
EnsemblGeneIds (GRCh37): ENSG00000012211
OMIM: 300111, Gene2Phenotype
PRICKLE3 is in 2 panels

2 reviews

Ivone Leong (Genomics England Curator)

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.
Created: 9 Dec 2020, 1:59 p.m. | Last Modified: 9 Dec 2020, 1:59 p.m.

Panel Version: 1.5

Created: 9 Dec 2020, 1:59 p.m.
Last Modified: 9 Dec 2020, 1:59 p.m.
Panel version: 1.5

Zornitza Stark (Australian Genomics)

Red List (low evidence)

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
Created: 5 Oct 2020, 9:44 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Leber’s hereditary optic neuropathy

Publications

32516135

Created: 5 Oct 2020, 9:44 a.m.

Panel version: 1.4

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red

Phenotypes

Leber’s hereditary optic neuropathy

OMIM

300111

Clinvar variants

Variants in PRICKLE3

Penetrance

None

Publications

32516135

Panels with this gene

History Filter Activity

9 Dec 2020, Gel status: 1

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: prickle3 has been classified as Red List (Low Evidence).

5 Oct 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

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

Leber hereditary optic neuropathy Gene: PRICKLE3