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Cytopenias and congenital anaemias

Gene: USP18

Red List (low evidence)

USP18 (ubiquitin specific peptidase 18)
EnsemblGeneIds (GRCh38): ENSG00000184979
EnsemblGeneIds (GRCh37): ENSG00000184979
OMIM: 607057, Gene2Phenotype
USP18 is in 10 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, PMID:12833411), 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, 11:35 a.m.
Comment on list classification: Added USP18 to panel based on March 2017 OMIM updates (association with Pseudo-TORCH syndrome 2, MIM:617397, which includes Thrombocytopenia phenotype. Kept rating as red until further evidence becomes available (currently the Turkish and German cases reported are from related individuals).
Created: 11 May 2017, 11:34 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pseudo-TORCH syndrome 2, MIM:617397

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Pseudo-TORCH syndrome 2, 617397 (includes Thrombocytopenia)
OMIM
607057
Clinvar variants
Variants in USP18
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

11 May 2017, Gel status: 1

Set publications

Rebecca Foulger (Genomics England curator)

Publications for USP18 were set to 27325888; 12833411

11 May 2017, Gel status: 1

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Red List (Low Evidence).

11 May 2017, Gel status: 0

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for USP18 were set to Pseudo-TORCH syndrome 2, 617397 (includes Thrombocytopenia)

11 May 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

USP18 was added to Cytopaenias and congenital anaemiaspanel. Sources: Other

11 May 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

USP18 was created by rfoulger