Intellectual disability
Gene: UBR7

UBR7 (ubiquitin protein ligase E3 component n-recognin 7 (putative))
EnsemblGeneIds (GRCh38): ENSG00000012963
EnsemblGeneIds (GRCh37): ENSG00000012963
OMIM: 613816, Gene2Phenotype
UBR7 is in 4 panels

6 reviews

Sarah Leigh (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 9 Mar 2022, 3:40 p.m. | Last Modified: 9 Mar 2022, 3:40 p.m.

Panel Version: 3.1510

Created: 9 Mar 2022, 3:40 p.m.
Last Modified: 9 Mar 2022, 3:40 p.m.
Panel version: 3.1510

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

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

33340455

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

Created: 7 Jan 2021, 9:55 a.m.
Last Modified: 7 Jan 2021, 9:55 a.m.
Panel version: 3.694

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
AUTOSOMAL RECESSIVE MENTAL RETARDATION

Publications

21937992

Created: 5 Nov 2017, 2:42 a.m.

Panel version: 0

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.

Created: 31 Oct 2017, 9:24 a.m.

Panel version: Imported from Intellectual disability update Oct 2017 panel version 0.4

Lu Raymond (university of cambridge )

Red List (low evidence)

Created: 23 Feb 2016, 11:06 a.m.

Panel version: 0.306

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Intellectual disability
epilepsy
hypothyroidism
congenital anomalies
dysmorphic features

OMIM

613816

Clinvar variants

Variants in UBR7

Penetrance

Complete

Publications

Panels with this gene