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

Intellectual disability syndromic and non-syndromic

Gene: USP7

Green List (high evidence)

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, 9:14 p.m. | Last Modified: 2 Dec 2020, 9:14 p.m.
Panel Version: 0.3227

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

Publications

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
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

History Filter Activity

4 Aug 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: USP7 were changed from Hao-Fountain syndrome, MIM# 616863; ID; Autism to Hao-Fountain syndrome, MIM# 616863; MONDO:0014805; Intellectual disability; Autism

2 Dec 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: USP7 were changed from ID; Autism to Hao-Fountain syndrome, MIM# 616863; ID; Autism

2 Dec 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: USP7 were set to 30679821

16 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Natasha Brown (Victorian Clinical Genetics Services)

Gene: usp7 has been classified as Green List (High Evidence).

16 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Natasha Brown (Victorian Clinical Genetics Services)

Gene: usp7 has been classified as Green List (High Evidence).

16 Dec 2019, Gel status: 1

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

Natasha Brown (Victorian Clinical Genetics Services)

gene: USP7 was added gene: USP7 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature Mode of inheritance for gene: USP7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: USP7 were set to 30679821 Phenotypes for gene: USP7 were set to ID; Autism Review for gene: USP7 was set to GREEN