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Intellectual disability

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 2 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: 3 family reports, of 5 patients reported and green review from Clinical Geneticist. Promoted this gene to green and removed 'watchlist' tag.
Created: 3 Apr 2017, 3:04 p.m.

Ellen Thomas (Genomics England Curator)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Macrocephaly, dysmorphic facies, and psychomotor retardation

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Macrocephaly, dysmorphic facies, and psychomotor retardation 617011
OMIM
605109
Clinvar variants
Variants in HERC1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 3

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

3 Apr 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

3 Apr 2017, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for HERC1 were set to Macrocephaly, dysmorphic facies, and psychomotor retardation 617011

3 Apr 2017, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for HERC1 were set to 26138117;26153217;27108999

3 Apr 2017, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for HERC1 were set to 26138117;26153217;27108999

3 Apr 2017, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for HERC1 were set to 26138117;26153217;27108999

3 Apr 2017, Gel status: 0

Added New Source

Ellen Thomas (Genomics England Curator)

HERC1 was added to Intellectual disabilitypanel. Sources: Other

3 Apr 2017, Gel status: 0

Created

Ellen Thomas (Genomics England Curator)

HERC1 was created by EllenThomas