Hydrocephalus

Gene: USP9X

Green List (high evidence)

USP9X (ubiquitin specific peptidase 9, X-linked)
EnsemblGeneIds (GRCh38): ENSG00000124486
EnsemblGeneIds (GRCh37): ENSG00000124486
OMIM: 300072, Gene2Phenotype
USP9X is in 8 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Created: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Sufficient evidence for this gene to be rated green, with phenotype relevant for this panel (Helen Britain, Genomics England)
Created: 7 Aug 2018, 10:08 a.m.

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

Phenotypes
Mental retardation, X-linked 99 300919 XLR; Mental retardation, X-linked 99, syndromic, female-restricted 300968

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Mental retardation, X-linked 99 300919 XLR
  • Mental retardation, X-linked 99, syndromic, female-restricted 300968
OMIM
300072
Clinvar variants
Variants in USP9X
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to USP9X.

7 Aug 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: usp9x has been classified as Green List (High Evidence).

7 Aug 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

USP9X was added to Hydrocephalus panel. Sources: Literature

7 Aug 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

USP9X was created by Sarah Leigh