Macrocephaly_Megalencephaly
Gene: HERC1
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
EnsemblGeneIds (GRCh38): ENSG00000103657
EnsemblGeneIds (GRCh37): ENSG00000103657
OMIM: 605109, Gene2Phenotype
HERC1 is in 4 panels
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION OMIM#617011
- OMIM
- 605109
- Clinvar variants
- Variants in HERC1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
18 Dec 2019, Gel status: 3
Entity classified by Genomics England curator
Tiong Tan (Victorian Clinical Genetics Services)Gene: herc1 has been classified as Green List (High Evidence).
18 Dec 2019, Gel status: 3
Entity classified by Genomics England curator
Tiong Tan (Victorian Clinical Genetics Services)Gene: herc1 has been classified as Green List (High Evidence).
18 Dec 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Tiong Tan (Victorian Clinical Genetics Services)gene: HERC1 was added gene: HERC1 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Literature Mode of inheritance for gene: HERC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HERC1 were set to 27108999; 26153217; 26138117 Phenotypes for gene: HERC1 were set to MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION OMIM#617011 Penetrance for gene: HERC1 were set to Complete Review for gene: HERC1 was set to GREEN