Cerebral Palsy
Gene: HUWE1EnsemblGeneIds (GRCh38): ENSG00000086758
EnsemblGeneIds (GRCh37): ENSG00000086758
OMIM: 300697, Gene2Phenotype
HUWE1 is in 9 panels
2 reviews
Clare van Eyk (University of Adelaide)
3 hemizygous males with pathogenic variants reported in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Spastic diplegia and hypotonia are reported clinical phenotypes.Created: 24 Jun 2024, 6:14 a.m. | Last Modified: 24 Jun 2024, 6:14 a.m.
Panel Version: 1.294
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
Intellectual developmental disorder, X-linked syndromic, Turner type, MIM#309590
Publications
- PMID: 38693247
Luisa Weiss (University of Adelaide)
1 large CP cohort study with three cases of HUWE1 mutation, two of which are VUS and one a likely benign variant. Note that one of the VUS is paternally inherited. No certain phenotypic overlap as HUWE1 mutations tend to cause ID, sometimes with muscular hypotonia.
Sources: LiteratureCreated: 7 Jun 2023, 3:11 a.m.
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
Intellectual developmental disorder, X-linked syndromic, Turner type MIM#309590
Publications
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 Amber
- Phenotypes
-
- Intellectual developmental disorder, X-linked syndromic, Turner type MIM#309590
- OMIM
- 300697
- Clinvar variants
- Variants in HUWE1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: HUWE1 were set to 31700678
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: huwe1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: huwe1 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: huwe1 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Luisa Weiss (University of Adelaide)gene: HUWE1 was added gene: HUWE1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: HUWE1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: HUWE1 were set to 31700678 Phenotypes for gene: HUWE1 were set to Intellectual developmental disorder, X-linked syndromic, Turner type MIM#309590 Review for gene: HUWE1 was set to AMBER