DDG2P
Gene: USP7

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

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease USP7-related developmental disorder (monoallelic) is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 30679821;26365382).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.

Panel Version: 3.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
USP7-related developmental disorder (monoallelic)

Publications

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 3.12

Rebecca Foulger (Genomics England curator)

I don't know

Added 'watchlist' tag to highlight different G2P ratings for different disorders.
Created: 28 Nov 2019, 9:27 a.m. | Last Modified: 28 Nov 2019, 9:27 a.m.

Panel Version: 1.171

Updated rating from Red to Amber to match current DDG2P ratings:
probable for USP7-related developmental disorder (monoallelic): monoallelic, loss of function.
possible for Intellectual disability, autism, epilepsy, aggressive behaviour, hypotonia, and hypogonadism: no MOI, no MOP.
Created: 28 Nov 2019, 9:27 a.m. | Last Modified: 28 Nov 2019, 9:27 a.m.

Panel Version: 1.171

Original DDG2P rating: possible. No MOP listed in DD-G2P download. No MOI listed in DD-G2P download.
Created: 19 Nov 2018, 11:31 a.m.

Created: 19 Nov 2018, 11:31 a.m.

Panel version: 1.171

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
DD-Gene2Phenotype

Phenotypes

USP7-related developmental disorder (monoallelic)

OMIM

602519

Clinvar variants

Variants in USP7

Penetrance

None

Publications

Panels with this gene

History Filter Activity

7 Oct 2023, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: USP7 were changed from USP7-related developmental disorder (monoallelic) to USP7-related developmental disorder (monoallelic)

7 Oct 2023, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: USP7 were changed from USP7-related developmental disorder (monoallelic) to USP7-related developmental disorder (monoallelic)

7 Oct 2023, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: USP7 were changed from USP7-related developmental disorder (monoallelic); Intellectual disability, autism, epilepsy, aggressive behaviour, hypotonia, and hypogonadism to USP7-related developmental disorder (monoallelic)

7 Oct 2023, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag watchlist was removed from gene: USP7.

4 Oct 2023, Gel status: 3

Added New Source, Set mode of inheritance, Set publications, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to USP7. Mode of inheritance for gene USP7 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: USP7 were updated from 26365382 to 30679821; 26365382 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

28 Nov 2019, Gel status: 2