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  3. HERC1
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Fetal anomalies

Gene: HERC1

Amber List (moderate evidence)
HERC1 (HECT and RLD domain containing E3 ubiquitin protein ligase family member 1)
EnsemblGeneIds (GRCh38): ENSG00000103657
EnsemblGeneIds (GRCh37): ENSG00000103657
OMIM: 605109, Gene2Phenotype
HERC1 is in 4 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2023 & July 2024. 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, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36
Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.36

Natalie Bibb (C&S GLH)

I don't know

Macrocephaly, dysmorphic facies, and psychomotor retardation, overgrowth. Green on R29 ID panel. Bialleleic variants in 3 families, 5 patients. PMID:28323226 - 1 patient homozygous novel variant. PMID:27108999 - Indian Sib pair homozygous splice site HERC1 mutation in both probands. Functional analysis revealed use of an alternate splice site, downstream stop codon and NMD. PMID:26153217 - 1 proband homozygous variant, megalencephaly and ID. PMID:26138117 - Columbian sib pair biallelic variants, overgrowth, ID, dysmorphism. Amber - more evidence of prenatal phenotype/more cases
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Macrocephaly, dysmorphic facies, and psychomotor retardation, OMIM:617011

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Macrocephaly, dysmorphic facies, and psychomotor retardation, OMIM:617011
OMIM
605109
Clinvar variants
Variants in HERC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Aug 2024, Gel status: 2

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: HERC1 was added gene: HERC1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: HERC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HERC1 were set to 28323226; 26138117; 27108999; 26153217 Phenotypes for gene: HERC1 were set to Macrocephaly, dysmorphic facies, and psychomotor retardation, OMIM:617011