Microcephaly
Gene: USP18

USP18 (ubiquitin specific peptidase 18)
EnsemblGeneIds (GRCh38): ENSG00000184979
EnsemblGeneIds (GRCh37): ENSG00000184979
OMIM: 607057, Gene2Phenotype
USP18 is in 8 panels

1 review

Paul De Fazio (Victorian Clinical Genetics Services)

Red List (low evidence)

PMID 27325888: 5 affecteds from two families reported with pseudo-TORCH syndrome. Only one of the affecteds had microcephaly but head circumference was only described as "small, no value"

PMID 31940699: One more patient reported but no mention of microcephaly.
Created: 2 Sep 2020, 1:02 a.m. | Last Modified: 2 Sep 2020, 1:02 a.m.

Panel Version: 0.273

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pseudo-TORCH syndrome 2 MIM#617397

Publications

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

Created: 2 Sep 2020, 1:02 a.m.
Last Modified: 2 Sep 2020, 1:02 a.m.
Panel version: 0.273

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Victorian Clinical Genetics Services

Phenotypes

Pseudo-TORCH syndrome 2 MIM#617397

OMIM

607057

Clinvar variants

Variants in USP18

Penetrance

None

Publications

Panels with this gene