Malformations of cortical development
Gene: HECTD4
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, 11:02 a.m. | Last Modified: 2 May 2024, 11:02 a.m.
Panel Version: 5.2
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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, 9:58 a.m. | Last Modified: 17 Oct 2023, 9:58 a.m.
Panel Version: 4.8
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: LiteratureCreated: 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
Tag Q4_23_promote_green was removed from gene: HECTD4.
Source Expert Review Green was added to HECTD4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag gene-checked tag was added to gene: HECTD4.
Tag Q4_23_promote_green tag was added to gene: HECTD4.
Gene: hectd4 has been classified as Amber List (Moderate Evidence).
gene: HECTD4 was added gene: HECTD4 was added to Malformations of cortical development. Sources: Literature,NHS GMS,Expert Review Green Mode of inheritance for gene: HECTD4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HECTD4 were set to 36401616 Phenotypes for gene: HECTD4 were set to Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, OMIM:620250