Fetal anomalies
Gene: HACE1

HACE1 (HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1)
EnsemblGeneIds (GRCh38): ENSG00000085382
EnsemblGeneIds (GRCh37): ENSG00000085382
OMIM: 610876, Gene2Phenotype
HACE1 is in 8 panels

1 review

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HACE1 gene rating from Green to Red.
Created: 24 Mar 2019, 4:30 p.m.

DDG2P rating in original PAGE list: Confirmed for HACE1 related disorder
Created: 11 Dec 2018, 9:05 a.m.

Created: 11 Dec 2018, 9:05 a.m.

Panel version: 0.134

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
PAGE DD-Gene2Phenotype

Phenotypes

HACE1 related disorder

OMIM

610876

Clinvar variants

Variants in HACE1

Penetrance

None

Panels with this gene

History Filter Activity

24 Mar 2019, Gel status: 1

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Red was added to HACE1. Rating Changed from Green List (high evidence) to Red List (low evidence)

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: HACE1 was added gene: HACE1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: HACE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HACE1 were set to HACE1 related disorder

Fetal anomalies Gene: HACE1