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Differences in sex development

Region: ISCA-46302-Gain

Xp21.2 region (includes NR0B1) Gain

Green List (high evidence)
Chromosome: X
GRCh38 Position: 30176883-30336883
Haploinsufficiency Score:
Triplosensitivity Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Required percent of overlap: 60%
Variant types: CNV Gain

2 reviews

Arina Puzriakova (Genomics England Curator)

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
Created: 10 Mar 2022, 4:08 p.m.
Last Modified: 10 Mar 2022, 4:08 p.m.
Panel version: 2.57

Catherine Snow (Genomics England)

I don't know

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: ClinGen
Created: 4 Feb 2021, 5:38 p.m.

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

Phenotypes
gonadal dysgenesis

Publications

Created: 4 Feb 2021, 5:38 p.m.

Panel version: 2.15

Details

ISCA ID
ISCA-46302-Gain
ISCA Region Name
Xp21.2 region (includes NR0B1) Gain
Chromosome
X
GRCh38 Coordinates
30176883-30336883
Haploinsufficiency Score
Triplosensitivity Score
Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Required percent of overlap
60%
Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • gonadal dysgenesis
Clinvar variants
Variants in
Penetrance
None
Variant types
CNV Gain
Publications

History Filter Activity

10 Mar 2022, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review was removed from Region: ISCA-46302-Gain.

10 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Region: isca-46302-gain has been classified as Green List (High Evidence).

4 Feb 2021, Gel status: 2

Added Tag

Catherine Snow (Genomics England)

Tag for-review tag was added to Region: ISCA-46302-Gain.

4 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Region: isca-46302-gain has been classified as Amber List (Moderate Evidence).

4 Feb 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Catherine Snow (Genomics England)

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