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Intellectual disability

Gene: USP27X

Amber List (moderate evidence)

USP27X (ubiquitin specific peptidase 27, X-linked)
EnsemblGeneIds (GRCh38): ENSG00000273820
EnsemblGeneIds (GRCh37): ENSG00000242013
OMIM: 300975, Gene2Phenotype
USP27X is in 3 panels

3 reviews

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Rebecca Foulger (Genomics England curator)

I don't know

2 families reported in PMID:25644381 (2016) with X-linked mental retardation, and a hemizygous variant in USP27X: 3 males from family D177 with a hemizygous 5-bp truncating deletion, and 1 unrelated male individual with a hemizygous missense variant (Y381H). 2 female carriers were unaffected. Probable DD-G2P gene for 'Intellectual Disability'. Amber rating with further cases required to rate as diagnostic-grade.
Created: 31 Oct 2017, 9:24 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Mental retardation 105, 300984; Intellectual Disability; X-linked intellectual disability; XLID

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
Phenotypes
  • Mental retardation 105, 300984
  • Intellectual Disability
  • X-linked intellectual disability
  • XLID
OMIM
300975
Clinvar variants
Variants in USP27X
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 2

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

29 Nov 2017, Gel status: 2

Added New Source, Set mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

Expert Review Amber was added to USP27X. Panel: Intellectual disability Model of inheritance for gene USP27X was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene USP27X was set to ['25644381']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

USP27X was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

USP27X was added to Intellectual disabilitypanel. Sources: Expert Review Red