Genes in panel
Regions in panel
Prev Next

Intellectual disability

Gene: UBR7

Amber List (moderate evidence)

UBR7 (ubiquitin protein ligase E3 component n-recognin 7 (putative))
EnsemblGeneIds (GRCh38): ENSG00000012963
EnsemblGeneIds (GRCh37): ENSG00000012963
OMIM: 613816, Gene2Phenotype
UBR7 is in 3 panels

5 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: In view of recent expert review by Zornitza Stark, upgraded from Red to Amber but with a recommendation of rating Green at the next GMS panel update (added 'for-review' tag)

At least 6 SNVs and 1 intragenic deletion reported in 7 individuals from 6 families with a comparable neurodevelopmental disorder. DD/ID was a feature in all cases (PMID:33340455)
Created: 25 Jan 2021, 6:26 p.m. | Last Modified: 25 Jan 2021, 6:26 p.m.
Panel Version: 3.740

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Seven individuals from 6 unrelated families. All had developmental delay, and all males had urogenital anomalies, namely cryptorchidism in 5/6 and small penis in 1/6. Six individuals had seizures and hypotonia. Hypothyroidism was present in 4/7 individuals, and ptosis was noted in 6/7 individuals. Five individuals exhibited cardiac abnormalities: two had ventricular septal defect, one had atrial septal defect, one had a patent ductus arteriosus requiring surgery, and the other had a patent ductus arteriosus and a patent foramen ovale that both closed spontaneously. Five individuals had short stature (height < 3rd percentile). Physical examination revealed various dysmorphic features, including prominent forehead (3/7), hypertelorism (4/7), telecanthus (1/7), epicanthus(1/7), downslanting palpebral fissures (3/7), thick eyebrow (1/7), low-set ears (3/7), long philtrum (2/7), unilateral single transverse palmar crease (1/7), and hypertrichosis (1/7).
Created: 7 Jan 2021, 9:55 a.m. | Last Modified: 7 Jan 2021, 9:55 a.m.
Panel Version: 3.694

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual disability; epilepsy; hypothyroidism; congenital anomalies; dysmorphic features

Publications

Variants in this GENE are reported as part of current diagnostic practice

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 Amber
Phenotypes
  • Intellectual disability
  • epilepsy
  • hypothyroidism
  • congenital anomalies
  • dysmorphic features
Tags
for-review
OMIM
613816
Clinvar variants
Variants in UBR7
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

25 Jan 2021, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: UBR7.

25 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: ubr7 has been classified as Amber List (Moderate Evidence).

25 Jan 2021, Gel status: 1

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: UBR7 were set to 21937992

25 Jan 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: UBR7 were changed from AUTOSOMAL RECESSIVE MENTAL RETARDATION to Intellectual disability; epilepsy; hypothyroidism; congenital anomalies; dysmorphic features

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

Created

Ellen McDonagh (Genomics England Curator)

UBR7 was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

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