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Intellectual disability syndromic and non-syndromic

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, at least 4 families and a mouse model.
Created: 2 May 2022, 8:47 a.m. | Last Modified: 2 May 2022, 8:47 a.m.
Panel Version: 0.4717

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
  • Genetic Health Queensland
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

2 May 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).

2 May 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HERC1 were changed from to Macrocephaly, dysmorphic facies, and psychomotor retardation, MIM# 617011

2 May 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HERC1 were set to

2 May 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: HERC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HERC1 was added gene: HERC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HERC1 was set to Unknown