Early onset or syndromic epilepsy

Gene: HECTD4

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.

Created: 2 May 2024, 1:13 p.m. | Last Modified: 6 May 2024, 9:19 p.m.

Panel Version: 5.6

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Green List (high evidence)

The OMIM entry for this gene is OMIM:620209, which has been cross-checked with both Ensembl and HGNC. Hence, gene-checked tag has been added.

Created: 17 Oct 2023, 9:59 a.m. | Last Modified: 17 Oct 2023, 9:59 a.m.

Panel Version: 4.118

Comment on list classification: There is sufficient evidence (five unrelated families) for this gene to be promoted to GREEN rating at the next major update.

Created: 5 Jun 2023, 1:55 p.m. | Last Modified: 5 Jun 2023, 1:55 p.m.

Panel Version: 5.177

PMID:36401616 reported seven patients from five unrelated families with either homozygous (3 families) or compound heterozygous variants (2 families) in HECTD4 gene and presenting with syndromic neurodevelopmental, seizure, and movement disorders and neurobehavioral phenotypes. All seven patients had severe (4 cases) or moderate (3 cases) intellectual disability.
Sources: Literature

Created: 5 Jun 2023, 1:53 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, OMIM:620250

Publications

• 36401616