Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Fetal anomalies

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 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

IUGR, joint contractures, microcephaly/macrocephaly are features.
Created: 31 Jan 2020, 10:54 a.m. | Last Modified: 14 Jan 2022, 10:23 p.m.
Panel Version: 0.2255

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Mental retardation, X-linked syndromic, Turner type

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Mental retardation, X-linked syndromic, Turner type, MIM#309590
OMIM
300697
Clinvar variants
Variants in HUWE1
Penetrance
None
Panels with this gene

History Filter Activity

14 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: huwe1 has been classified as Green List (High Evidence).

14 Jan 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HUWE1 were changed from MENTAL RETARDATION SYNDROMIC X-LINKED TURNER TYPE to Mental retardation, X-linked syndromic, Turner type, MIM#309590

14 Jan 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: HUWE1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HUWE1 was added gene: HUWE1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: HUWE1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: HUWE1 were set to MENTAL RETARDATION SYNDROMIC X-LINKED TURNER TYPE