Disorders of sex development
Region: ISCA-46302-GainXp21.2 region (includes NR0B1) Gain
The rating of this region has been updated following NHS Genomic Medicine Service approval.Created: 10 Mar 2022, 4:08 p.m. | Last Modified: 10 Mar 2022, 4:08 p.m.
Panel Version: 2.57
Comment on list classification: Addition of region inline with ClinGen regions classifications. Reviewed by GEL clinical team for panel phenotype, NR0B1 green on panel so CNV should be added too and phenotype of gonadal dysgenesis relevant to this panel.Created: 4 Feb 2021, 5:41 p.m. | Last Modified: 4 Feb 2021, 5:41 p.m.
Panel Version: 2.16
Sources: ClinGenCreated: 4 Feb 2021, 5:38 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
gonadal dysgenesis
Publications
Tag for-review was removed from Region: ISCA-46302-Gain.
Region: isca-46302-gain has been classified as Green List (High Evidence).
Tag for-review tag was added to Region: ISCA-46302-Gain.
Region: isca-46302-gain has been classified as Amber List (Moderate Evidence).
Region: ISCA-46302-Gain was added Region: ISCA-46302-Gain was added to Disorders of sex development. Sources: ClinGen Mode of inheritance for Region: ISCA-46302-Gain was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for Region: ISCA-46302-Gain were set to 22518125; 17504899; 20685758 Phenotypes for Region: ISCA-46302-Gain were set to gonadal dysgenesis Review for Region: ISCA-46302-Gain was set to AMBER