Blepharophimosis
Gene: HUWE1

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)

Affected individuals show global developmental delay from infancy, with variably impaired intellectual development and poor or absent speech, often with delayed walking. Dysmorphic features are common and can include macrocephaly, microcephaly, deep-set eyes, hypotelorism, blepharophimosis, dysplastic, large, or low-set ears, long face, bitemporal narrowing, high-arched palate, thin upper lip, and scoliosis or mild distal skeletal anomalies, such as brachydactyly or tapered fingers. Males tend to have cryptorchidism. Other features, such as hypotonia, seizures, and delayed bone age, are more variable.

Some female carriers manifest mild symptoms.

More than 20 families reported.
Created: 5 Jun 2021, 4:49 a.m. | Last Modified: 5 Jun 2021, 4:49 a.m.

Panel Version: 0.31

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Mental retardation, X-linked syndromic, Turner type, MIM# 309590; MONDO:0010407

Publications

Created: 5 Jun 2021, 4:49 a.m.
Last Modified: 5 Jun 2021, 4:49 a.m.
Panel version: 0.31

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
MONDO:0010407

OMIM

300697

Clinvar variants

Variants in HUWE1

Penetrance

None

Publications

Panels with this gene