Unexplained kidney failure in young people
Region: ISCA-37401-Loss11p13 (WAGR syndrome) region Loss
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
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: 1.105
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
- ClinGen
- Phenotypes
-
- Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome
- 194072
- 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.
7 Sep 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Louise Daugherty (Genomics England Curator)Region: ISCA-37401-Loss was added Region: ISCA-37401-Loss was added to Unexplained kidney failure in young people. Sources: ClinGen,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 Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome; 194072