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Fetal anomalies

Gene: HERC1

Green List (high 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

1 review

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Multiple individuals reported with macrosomia and macrocephaly detected at birth.
Sources: Literature
Created: 28 Feb 2022, 3:30 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Macrocephaly, dysmorphic facies, and psychomotor retardation - MIM#617011

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Macrocephaly, dysmorphic facies, and psychomotor retardation - MIM#617011
OMIM
605109
Clinvar variants
Variants in HERC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: herc1 has been classified as Green List (High Evidence).

28 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: herc1 has been classified as Green List (High Evidence).

28 Feb 2022, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: HERC1 was added gene: HERC1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: HERC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HERC1 were set to 28323226; 27108999; 26153217; 26138117 Phenotypes for gene: HERC1 were set to Macrocephaly, dysmorphic facies, and psychomotor retardation - MIM#617011 Review for gene: HERC1 was set to GREEN