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Renal and urinary tract disorders

Region: ISCA-37401-Loss

11p13 (WAGR syndrome) region Loss

Green List (high evidence)
Chromosome: 11
GRCh38 Position: 31781961-32489442
Haploinsufficiency Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score:
Required percent of overlap: 60%
Variant types: CNV Loss

1 review

Ivone Leong (Genomics England Curator)

The required percent of overlap for this region has been changed from 80% to 60% following NHS Genomic Medicine Service approval.
Created: 16 Mar 2022, 12:26 p.m. | Last Modified: 16 Mar 2022, 12:26 p.m.
Panel Version: 1.22
Created: 16 Mar 2022, 12:26 p.m.
Last Modified: 16 Mar 2022, 12:26 p.m.
Panel version: 1.22

Details

ISCA ID
ISCA-37401-Loss
ISCA Region Name
11p13 (WAGR syndrome) region Loss
Chromosome
11
GRCh38 Coordinates
31781961-32489442
Haploinsufficiency Score
Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score
Required percent of overlap
60%
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • 194072
  • Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome
Clinvar variants
Variants in
Penetrance
None
Variant types
CNV Loss

History Filter Activity

16 Mar 2022, Gel status: 3

Changed Required Overlap Percentage

Arina Puzriakova (Genomics England Curator)

Required Overlap Percentage for ISCA-37401-Loss was changed from 80 to 60.

30 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Checked against the component panels, and ready to be promoted to version 1.

20 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

Region: ISCA-37401-Loss was added Region: ISCA-37401-Loss was added to Renal and urinary tract disorders. Sources: Expert Review Green Mode of inheritance for Region: ISCA-37401-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for Region: ISCA-37401-Loss were set to 194072; Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome