Autism
Gene: USP7

USP7 (ubiquitin specific peptidase 7)
EnsemblGeneIds (GRCh38): ENSG00000187555
EnsemblGeneIds (GRCh37): ENSG00000187555
OMIM: 602519, Gene2Phenotype
USP7 is in 3 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Hao-Fountain syndrome (HAFOUS) is a neurodevelopmental disorder characterized by global developmental delay, variably impaired intellectual development with significant speech delay, behavioral abnormalities, such as autism, and mild dysmorphic facies. Additional features are variable, but may include hypotonia, feeding problems, delayed walking with unsteady gait, hypogonadism in males, and ocular anomalies, such as strabismus. Some patients develop seizures and some have mild white matter abnormalities on brain imaging.
Created: 2 Dec 2020, 9:19 p.m. | Last Modified: 3 Dec 2020, 12:10 a.m.

Panel Version: 0.123

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hao-Fountain syndrome, MIM# 616863; MONDO:0014805; Intellectual disability; Autism

Publications

Created: 2 Dec 2020, 9:19 p.m.
Last Modified: 3 Dec 2020, 12:10 a.m.
Panel version: 0.166

Natasha Brown (Victorian Clinical Genetics Services)

Green List (high evidence)

at least 16 individuals identified and 7 previous cases
Sources: Literature
Created: 16 Dec 2019, 5:43 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
ID; Autism

Publications

30679821

Created: 16 Dec 2019, 5:43 a.m.

Panel version: Imported from Intellectual disability, syndromic and non-syndromic_GHQ_VCGS panel version 0.1410

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Hao-Fountain syndrome, MIM# 616863
MONDO:0014805
Intellectual disability
Autism

OMIM

602519

Clinvar variants

Variants in USP7

Penetrance

None

Publications

Panels with this gene