Early onset or syndromic epilepsy

Gene: PIGK

Green List (high evidence)

Nguyen et al, 2020 - 12 individuals from 9 unrelated families with 10 different bi-allelic PIGK variants - the majority of individuals had epilepsy (8/12).

Created: 29 Jan 2021, 4:08 p.m. | Last Modified: 29 Jan 2021, 4:08 p.m.

Panel Version: 2.281

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• 32220290

Comment on list classification: Changed rating to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).

Created: 20 Oct 2020, 1:15 p.m. | Last Modified: 20 Oct 2020, 1:15 p.m.

Panel Version: 2.181

Green List (high evidence)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.

Created: 3 Mar 2022, 5:34 p.m. | Last Modified: 3 Mar 2022, 5:34 p.m.

Panel Version: 2.491

Comment on list classification: Zornitza Stark loaded PIGK as a green gene on Intellectual disability (https://panelapp.genomicsengland.co.uk/panels/285/gene/PIGK/#!review) and suggested that it was also suitable for the Genetic epilepsy syndromes panel.

Created: 23 Jun 2020, 5:25 p.m. | Last Modified: 23 Jun 2020, 5:25 p.m.

Panel Version: 2.95

Associated with relevant phenotype in OMIM and as probable Gen2Phen gene for PIGK-associated Neurodevelopmental Syndrome. At least 7 variants reported in at least 5 unrelated cases with seizures.
Sources: Expert list

Created: 23 Jun 2020, 5:22 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures 618879

Publications

• 32220290