Early onset or syndromic epilepsy

Gene: UBR7

The rating of this gene has been updated following NHS Genomic Medicine Service approval.

Created: 3 Mar 2022, 5:34 p.m. | Last Modified: 3 Mar 2022, 5:34 p.m.

Panel Version: 2.491

Green List (high evidence)

Comment on list classification: Rating Amber but sufficient number of unrelated cases with relevant phenotype to promote this gene to Green at the next GMS panel update (added 'for-review' tag)

Created: 25 Jan 2021, 6:35 p.m. | Last Modified: 25 Jan 2021, 6:35 p.m.

Panel Version: 2.274

- PMID: 33340455 (2021) - At least 6 SNVs and 1 intragenic deletion reported in 7 individuals from 6 families with a comparable neurodevelopmental disorder. 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).
Sources: Literature

Created: 25 Jan 2021, 6:33 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

• 33340455