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Early onset or syndromic epilepsy

Gene: HECTD4

Green List (high evidence)

HECTD4 (HECT domain E3 ubiquitin protein ligase 4)
EnsemblGeneIds (GRCh38): ENSG00000173064
EnsemblGeneIds (GRCh37): ENSG00000173064
HECTD4 is in 5 panels

3 reviews

Eleanor Williams (Genomics England Curator)

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

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Achchuthan Shanmugasundram (Genomics England Curator)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, OMIM:620250
Tags
gene-checked
Clinvar variants
Variants in HECTD4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 May 2024, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q4_23_promote_green was removed from gene: HECTD4.

2 May 2024, Gel status: 3

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to HECTD4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

17 Oct 2023, Gel status: 2

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag gene-checked tag was added to gene: HECTD4.

11 Oct 2023, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: hectd4 has been classified as Amber List (Moderate Evidence).

11 Oct 2023, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q4_23_promote_green tag was added to gene: HECTD4.

11 Oct 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

gene: HECTD4 was added gene: HECTD4 was added to Early onset or syndromic epilepsy. 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