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  3. HUWE1
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Craniosynostosis

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

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

At least 5 unrelated cases reported with craniosynostosis as a feature of the condition, 3 unrelated females with missense p.Arg110Gln and 2 unrelated males with p.Arg110Trp.
Created: 3 Jun 2020, 6:54 a.m. | Last Modified: 3 Jun 2020, 6:54 a.m.
Panel Version: 0.12

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 MIM#309590

Publications

Created: 3 Jun 2020, 6:54 a.m.
Last Modified: 3 Jun 2020, 6:54 a.m.
Panel version: 0.12

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
  • Victorian Clinical Genetics Services
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

3 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

3 Jun 2020, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: HUWE1 were changed from to Mental retardation, X-linked syndromic, Turner type MIM#309590

3 Jun 2020, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

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

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HUWE1 was added gene: HUWE1 was added to Craniosynostosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: HUWE1 was set to Unknown