Intracerebral calcification disorders

Gene: USP18

Green List (high evidence)

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

1 review

Ellen Thomas (Genomics England Curator)

Comment on list classification: One publication (recent), two families, segregation in 5 affected individuals plus an unaffected sibling, evidence of knock-out at protein level in the affected individuals.
Created: 19 Dec 2016, 5:28 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
pseudo-TORCH syndrome

Publications

History Filter Activity

19 Dec 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

19th Dec 2016: panel revised according to expert review and internal curation review.

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

19 Dec 2016, Gel status: 0

Added New Source

Ellen Thomas (Genomics England Curator)

USP18 was added to Intracerebral calcification disorderspanel. Sources: Literature

19 Dec 2016, Gel status: 0

Created

Ellen Thomas (Genomics England Curator)

USP18 was created by EllenThomas