Choanal atresia
Gene: USP9X

USP9X (ubiquitin specific peptidase 9, X-linked)
EnsemblGeneIds (GRCh38): ENSG00000124486
EnsemblGeneIds (GRCh37): ENSG00000124486
OMIM: 300072, Gene2Phenotype
USP9X is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

LoF leads to a neurodevelopmental disorders in both males and females. However, the disorder in females is accompanied by a range of congenital anomalies and is considered a distinct XLD entity. Over 35 unrelated individuals reported.

A wide range of additional congenital anomalies have been reported, including scoliosis, postaxial polydactyly, mild cardiac or urogenital anomalies, dysmorphic facial features, and mild structural brain abnormalities. Choanal atresia reported.
Created: 26 Mar 2021, 9:17 p.m. | Last Modified: 26 Mar 2021, 9:17 p.m.

Panel Version: 0.16

Mode of inheritance
Other

Phenotypes
Mental retardation, X-linked 99, syndromic, female-restricted, MIM# 300968

Publications

Created: 26 Mar 2021, 9:17 p.m.
Last Modified: 26 Mar 2021, 9:17 p.m.
Panel version: 0.16

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 Review Green
Genomics England PanelApp
Expert list

Phenotypes

Intellectual developmental disorder 99 MIM#300919
syndromic, female-restricted Intellectual developmental disorder 99 MIM#300968

OMIM

300072

Clinvar variants

Variants in USP9X

Penetrance

None

Publications

Panels with this gene

History Filter Activity

3 Oct 2024, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: USP9X were changed from Mental retardation, X-linked 99, syndromic, female-restricted MIM#300968; MONDO:0010502 to Intellectual developmental disorder 99 MIM#300919; syndromic, female-restricted Intellectual developmental disorder 99 MIM#300968

26 Mar 2021, Gel status: 3