1. Panels
  2. Unexplained young onset end-stage renal disease - additional genes
  3. ISCA-37401-Loss
STRs in panel
Prev Next

Unexplained young onset end-stage renal disease - additional genes

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

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

This gene has been added to this panel with green rating as it was present in R257 Unexplained young onset end-stage renal disease panel (v5.1) with the same rating before it was made a super panel.
Created: 25 Sep 2024, 9:40 p.m. | Last Modified: 25 Sep 2024, 9:40 p.m.
Panel Version: 0.65
Created: 25 Sep 2024, 9:40 p.m.
Last Modified: 25 Sep 2024, 9:40 p.m.
Panel version: 0.65

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: 1.33
Created: 16 Mar 2022, 12:26 p.m.
Last Modified: 16 Mar 2022, 12:26 p.m.
Copied from panel: Unexplained young onset end-stage renal disease v5.4

Eleanor Williams (Genomics England Curator)

Region imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of Green
Created: 9 Apr 2019, 11:19 a.m.
Created: 9 Apr 2019, 11:19 a.m.

Copied from panel: Unexplained young onset end-stage renal disease v5.4

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
  • Wilms tumor, aniridia, genitourinary anomalies and impaired intellectual development syndrome, OMIM:194072
Clinvar variants
Variants in
Penetrance
None
Variant types
CNV Loss

History Filter Activity

27 Sep 2024, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for Region: ISCA-37401-Loss were changed from 194072; Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome to Wilms tumor, aniridia, genitourinary anomalies and impaired intellectual development syndrome, OMIM:194072

27 Sep 2024, Gel status: 3

Changed Triplosensitivity Score

Achchuthan Shanmugasundram (Genomics England Curator)

Triplosensitivity Score for ISCA-37401-Loss was changed from None to .

25 Sep 2024, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

Region: ISCA-37401-Loss was added Region: ISCA-37401-Loss was added to Unexplained young onset end-stage renal disease - additional genes. 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