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Fetal anomalies

Gene: HECTD1

Amber List (moderate evidence)
HECTD1 (HECT domain E3 ubiquitin protein ligase 1)
EnsemblGeneIds (GRCh38): ENSG00000092148
EnsemblGeneIds (GRCh37): ENSG00000092148
HECTD1 is in 1 panel

2 reviews

Arina Puzriakova (Genomics England Curator)

I don't know

New gene added to this panel with an Amber rating, inline with the recent review by the R21 Clinical Oversight Group.
Created: 5 Sep 2025, 4:41 p.m. | Last Modified: 5 Sep 2025, 4:41 p.m.
Panel Version: 6.29
Created: 5 Sep 2025, 4:41 p.m.
Last Modified: 5 Sep 2025, 4:41 p.m.
Panel version: 6.29

Sarah Graham (West Midlands Regional Genetics Laboratory, Birmingham Women's and Children’s NHS Foundation Trust)

I don't know

This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Created: 5 Sep 2025, 4:31 p.m. | Last Modified: 5 Sep 2025, 4:31 p.m.
Panel Version: 6.28
Rare missense variants detected in five cases with neural tube defects (38451291). 15 variants (10 de novo, 3 unknown inheritance, 2 compound heterozygous) in 14 individuals with neurodevelopmental disorders; minority of cases had congenital anomalies, which were variable (39879987). Biallelic LoF variants in one case with congenital heart disease (37165897). Emerging disorder, needs further characterization of prenatal phenotype.
Created: 5 Sep 2025, 2:55 p.m. | Last Modified: 5 Sep 2025, 2:55 p.m.
Panel Version: 6.24

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder, MONDO:0700092

Publications

Created: 5 Sep 2025, 2:55 p.m.
Last Modified: 5 Sep 2025, 2:55 p.m.
Panel version: 6.28

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092
Clinvar variants
Variants in HECTD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Sep 2025, Gel status: 2

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

Arina Puzriakova (Genomics England Curator)

gene: HECTD1 was added gene: HECTD1 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: HECTD1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: HECTD1 were set to 39879987; 38451291; 37165897 Phenotypes for gene: HECTD1 were set to Neurodevelopmental disorder, MONDO:0700092