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Intellectual disability

Gene: UBR7

Red List (low evidence)

UBR7 (ubiquitin protein ligase E3 component n-recognin 7 (putative))
EnsemblGeneIds (GRCh38): ENSG00000012963
EnsemblGeneIds (GRCh37): ENSG00000012963
OMIM: 613816, Gene2Phenotype
UBR7 is in 2 panels

3 reviews

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
AUTOSOMAL RECESSIVE MENTAL RETARDATION

Publications

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

Possible DD-G2P gene for 'AUTOSOMAL RECESSIVE MENTAL RETARDATION' from PMID:21937992 but no further ID evidence.
Created: 31 Oct 2017, 9:24 a.m.

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • AUTOSOMAL RECESSIVE MENTAL RETARDATION
OMIM
613816
Clinvar variants
Variants in UBR7
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

UBR7 was added to Intellectual disabilitypanel. Sources: Expert Review Red

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

UBR7 was created by ellenmcdonagh