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Neonatal or paediatric intensive care admission with a likely monogenic cause

Gene: USP18

Red List (low evidence)

USP18 (ubiquitin specific peptidase 18)
EnsemblGeneIds (GRCh38): ENSG00000184979
EnsemblGeneIds (GRCh37): ENSG00000184979
OMIM: 607057, Gene2Phenotype
USP18 is in 11 panels

1 review

Rebecca Foulger (Genomics England curator)

In 3 sibs, born of consanguineous Turkish parents (family A), with pseudo-TORCH syndrome-2 (MIM:617397), Meuwissen et al. (2016, PMID:27325888) identified a homozygous c.652C-T transition in exon 7 of the USP18 gene, resulting in a Q218X substitution. Sanger sequencing of the USP18 gene in 2 German sibs (family B) with a similar phenotype, previously reported by Knoblauch et al. (2003), identified a heterozygous Q218X mutation on 1 allele. Haplotype analysis of the region containing the Q218X mutation suggested a common ancestor between the 2 families and a founder effect.
Created: 11 May 2017, 10:24 a.m.
Added USP18 to panel based on March 2017 OMIM updates (association with Pseudo-TORCH syndrome 2, MIM:617397) after recommendation by Arianna Tucci.
Created: 11 May 2017, 10:06 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pseudo-TORCH syndrome 2, 617397

Publications

History Filter Activity

11 May 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

USP18 was added to Neonatal or paediatric intensive care admission with a likely monogenic causepanel. Sources: Other

11 May 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

USP18 was created by rfoulger