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DDG2P

Gene: HUWE1

Green List (high evidence)

HUWE1 (HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase)
EnsemblGeneIds (GRCh38): ENSG00000086758
EnsemblGeneIds (GRCh37): ENSG00000086758
OMIM: 300697, Gene2Phenotype
HUWE1 is in 5 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: confirmed. DDG2P mode of pathogenicity: all missense/in frame
Created: 19 Nov 2018, 11:30 a.m.

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
Phenotypes
  • MENTAL RETARDATION SYNDROMIC X-LINKED TURNER TYPE 300706
OMIM
300697
Clinvar variants
Variants in HUWE1
Penetrance
None
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: HUWE1 was added gene: HUWE1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HUWE1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: HUWE1 were set to 7943042; 18252223 Phenotypes for gene: HUWE1 were set to MENTAL RETARDATION SYNDROMIC X-LINKED TURNER TYPE 300706 Mode of pathogenicity for gene: HUWE1 was set to Other - please provide details in the comments