Early onset or syndromic epilepsy

Gene: PPP1R3F

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to 'X-LINKED: hemizygous mutation in males, biallelic mutations in females' following NHS Genomic Medicine Service approval.

Created: 2 May 2024, 1:13 p.m. | Last Modified: 6 May 2024, 9:23 p.m.

Panel Version: 5.6

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Green List (high evidence)

Comment on list classification: There are at least six patients reported with epilepsy and with hemizygious PPP1R3F variants and hence this gene should be promoted to green rating at the next GMS review.

Created: 13 Sep 2023, 1:37 p.m. | Last Modified: 13 Sep 2023, 7:17 p.m.

Panel Version: 4.97

PMID:37531237 - 13 unrelated males were identified with hemizygous variants in PPP1R3F gene and were reported with a novel X-linked recessive neurodevelopmental disorder. Six of these 13 patients were reported with heterogeneous seizure types including generalized, nocturnal, tonic, atonic, focal, myoclonic, and atypical absence.

This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.

Created: 13 Sep 2023, 1:24 p.m. | Last Modified: 13 Sep 2023, 7:16 p.m.

Panel Version: 4.97

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
neurodevelopmental disorder, MONDO:0700092; epilepsy, MONDO:0005027

Publications

• 37531237

Green List (high evidence)

13 unrelated hemizygous individuals reported with functional evidence
Sources: Literature

Created: 7 Sep 2023, 7:15 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Neurodevelopmental Disorder, MONDO:0700092,PPP1R3F-related

Publications

• 37531237