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Intellectual disability

Gene: HECTD4

Green List (high evidence)
HECTD4 (HECT domain E3 ubiquitin protein ligase 4)
EnsemblGeneIds (GRCh38): ENSG00000173064
EnsemblGeneIds (GRCh37): ENSG00000173064
HECTD4 is in 6 panels

2 reviews

Arina Puzriakova (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: 11 Oct 2023, 9:34 a.m. | Last Modified: 11 Oct 2023, 9:34 a.m.
Panel Version: 5.286

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 11 Oct 2023, 9:34 a.m.
Last Modified: 11 Oct 2023, 9:34 a.m.
Panel version: 5.286

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, 9:57 a.m. | Last Modified: 17 Oct 2023, 9:57 a.m.
Panel Version: 5.313
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

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

Panel version: 5.313

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

17 Oct 2023, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

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

11 Oct 2023, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_23_promote_green was removed from gene: HECTD4.

11 Oct 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

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

5 Jun 2023, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

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

5 Jun 2023, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

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

5 Jun 2023, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

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

5 Jun 2023, Gel status: 2

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q2_23_promote_green tag was added to gene: HECTD4.

5 Jun 2023, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

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

5 Jun 2023, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: HECTD4 was added gene: HECTD4 was added to Intellectual disability - microarray and sequencing. Sources: Literature 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 Review for gene: HECTD4 was set to GREEN