Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders

Gene: HERC1

Red List (low 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 from Ellen Thomas 3rd April 2017: It is not so clear-cut, "for the overgrowth panel as not all the children were overgrown and some of them only for parts of their development."
Created: 3 Apr 2017, 3:19 p.m.

Louise Daugherty (Genomics England Curator)

I don't know

Review and Amber rating from Kate Tatton-Brown April 2017: Limited evidence currently that an overgrowth gene although may be very rare contributor to overgrowth
Created: 31 May 2019, 11:18 a.m.
HERC1 has been associated to a syndromic form of overgrowth and intellectual disability. There are 3 unrelated cases with Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR).
Human overgrowth syndromes (OGID) are a ill-defined group of conditions with height and/or head circumference ≥ 2SD above the mean, together with additional phenotypic abnormalities, the commonest of which is intellectual disability. Need to refer to the clinical team if HERC1 should be Green (as the abnormal growth of the head is not the dominant phenotype)
Created: 31 Mar 2017, 1:06 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Macrocephaly, dysmorphic facies, and psychomotor retardation (includes overgrowth phenotype), 617011

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • Macrocephaly, dysmorphic facies, and psychomotor retardation (includes overgrowth phenotype), 617011
OMIM
605109
Clinvar variants
Variants in HERC1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

31 Mar 2017, Gel status: 1

Upload gene information

Louise Daugherty (Genomics England Curator)

HERC1 was added to Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorderspanel. Sources: Radboud University Medical Center, Nijmegen

31 Mar 2017, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

HERC1 was added to Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorderspanel. Sources: Literature

31 Mar 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

HERC1 was created by LouiseD