Genetic Epilepsy

Gene: HNRNPH2

Green List (high evidence)

>30 individuals reported thus far mostly de novo variants, some reports of inheritance from mosaic mother. Toxic GoF was first postulated but limited studies done on 3 missense showed mislocalisation, reduced interaction with partner proteins and substantial alterations in the regulation of alternative splicing along with global transcriptome changes.

ID and epilepsy are the main clinical features.

Created: 12 Jan 2022, 7:18 a.m. | Last Modified: 12 Jan 2022, 7:18 a.m.

Panel Version: 0.1417

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Intellectual developmental disorder, X-linked, syndromic, Bain type MIM#300986

Publications

• 34907471
• 33728377
• 31670473
• 31236915
• 30887513

Green List (high evidence)

>30 individuals reported thus far
mostly de novo variants, some reports of inheritance from mosaic mother.

toxic GoF was first postulated but limited studies done on 3 missense showed mislocalisation, reduced interaction with partner proteins and substantial alterations in the regulation of alternative splicing along with global transcriptome changes

Created: 10 Jan 2022, 1:13 a.m. | Last Modified: 10 Jan 2022, 1:13 a.m.

Panel Version: 0.10570

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Intellectual developmental disorder, X-linked, syndromic, Bain type MIM#300986

Publications

• 34907471
• 33728377
• 31670473
• 31236915
• 30887513

Variants in this GENE are reported as part of current diagnostic practice