Optic Atrophy
Gene: PLAA

PLAA (phospholipase A2 activating protein)
EnsemblGeneIds (GRCh38): ENSG00000137055
EnsemblGeneIds (GRCh37): ENSG00000137055
OMIM: 603873, Gene2Phenotype
PLAA is in 7 panels

1 review

Crystle Lee (Victorian Clinical Genetics Services)

I don't know

Optic atrophy seems to be a variable feature. Total of 3 patients presented with OA however appears to be distantly related families.

PMID: 28413018; Hall et al. (2017) reported 10 patients (4 consang fams), only 3 of the 5 assessed had optic atrophy. Same missense reported in all 3 families and though to be inherited on same haplotype. Forth unrelated family not reported to have OA

PMID: 28007986; Zaccai et al. (2017) reported 7 affected individuals from 2 consang family. Only 1 reported with retinal atrophy.
Created: 15 Apr 2020, 12:08 a.m. | Last Modified: 15 Apr 2020, 12:08 a.m.

Panel Version: 0.60

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies (MIM#617527)

Publications

Created: 15 Apr 2020, 12:08 a.m.
Last Modified: 15 Apr 2020, 12:08 a.m.
Panel version: 0.60

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
Victorian Clinical Genetics Services

Phenotypes

Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies (MIM#617527)

OMIM

603873

Clinvar variants

Variants in PLAA

Penetrance

None

Publications

Panels with this gene