Choanal atresia

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

Sarah Leigh (Genomics England Curator)

Comment on phenotypes: Variants also associated with Mental retardation, X-linked 99 300919 in males
Created: 31 Jul 2018, 2:55 p.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Multi-system developmental disorder in females, of which choanal atresia is a key feature.
Created: 25 Jul 2018, 10:52 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)

Publications

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

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
  • Expert list
  • Expert Review Green
Phenotypes
  • Mental retardation, X-linked 99, syndromic, female-restricted 300968
OMIM
300072
Clinvar variants
Variants in USP9X
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

31 Jul 2018, Gel status: 4

Set mode of pathogenicity

Sarah Leigh (Genomics England Curator)

Mode of pathogenicity for gene: USP9X was changed to None

31 Jul 2018, Gel status: 4

Removed Source, Added New Source, Set penetrance

Sarah Leigh (Genomics England Curator)

Source Other was removed from USP9X. Panel: Choanal atresia Expert list was added to USP9X. Panel: Choanal atresia Phenotypes for gene USP9X were set to Mental retardation, X-linked 99, syndromic, female-restricted 300968

31 Jul 2018, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: USP9X were set to 26833328

31 Jul 2018, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: USP9X were set to Mental retardation, X-linked 99, syndromic, female-restricted 300968

31 Jul 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).

25 Jul 2018, Gel status: 0

Added New Source

Katharina Steindl (University of Zurich)

USP9X was added to Choanal atresia panel. Sources: Other

25 Jul 2018, Gel status: 0

Created

Katharina Steindl (University of Zurich)

USP9X was created by Katharina Steindl