Genetic Epilepsy

Gene: H3F3A

Green List (high evidence)

33 unrelated individuals reported with missense variants in H3F3A. Phenotype primarily comprised intellectual disability and minor congenital anomalies, regression in significant proportion. Seizures in 50%.
Sources: Literature

Created: 5 Dec 2020, 12:18 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual disability; regression; seizures

Publications

• 33268356

I don't know

PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 14 de novo missense identified in ~10,000 cases with developmental disorders (no other phenotype info provided).
PMID: 31942419 - a single case with intellectual disability, microcephaly, and severe developmental delay with a de novo missense (Leu62Arg). No functional evidence.
ClinVar VCV000520774.5 - two lab submissions from Ambry genetics and Undiagnosed Disease Network for p.Gln126Arg with a neurological phenotype including ID and developmental delay, and other syndromic features. One is reported de novo, and for the other de novo status is not mentioned.

Created: 2 Nov 2020, 11:29 p.m. | Last Modified: 2 Nov 2020, 11:29 p.m.

Panel Version: 0.5278

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Developmental disorders; intellectual disability, microcephaly, severe developmental delay

Publications

• 33057194
• 31942419