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Embryonal tumour of possible germline origin

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

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

This region has been added to the panel for the clinical indication 'R456 Embryonal tumour of possible germline origin' with a green rating as agreed with the NHS Genomic Medicine Service.
Created: 11 Feb 2026, 10:52 a.m. | Last Modified: 11 Feb 2026, 10:52 a.m.
Panel Version: 0.7
Comment on phenotypes: The OMIM record (MIM #194072) was last accessed on 30 December 2025.
Created: 30 Dec 2025, 11:55 a.m. | Last Modified: 30 Dec 2025, 11:55 a.m.
Panel Version: 0.4

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Wilms tumor, aniridia, genitourinary anomalies and impaired intellectual development syndrome, OMIM:194072; WAGR syndrome, MONDO:0008681

Created: 30 Dec 2025, 11:55 a.m.
Last Modified: 30 Dec 2025, 11:55 a.m.
Panel version: 0.7

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: 2.27
Created: 16 Mar 2022, 12:26 p.m.
Last Modified: 16 Mar 2022, 12:26 p.m.
Copied from panel: Childhood solid tumours v5.8

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
  • ClinGen
  • Expert Review Green
Phenotypes
  • Wilms tumor, aniridia, genitourinary anomalies and impaired intellectual development syndrome, OMIM:194072
  • WAGR syndrome, MONDO:0008681
Clinvar variants
Variants in
Penetrance
None
Variant types
CNV Loss

History Filter Activity

30 Dec 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for Region: ISCA-37401-Loss were changed from Wilms tumor, aniridia, genitourinary anomalies and impaired intellectual development syndrome, OMIM:194072 to Wilms tumor, aniridia, genitourinary anomalies and impaired intellectual development syndrome, OMIM:194072; WAGR syndrome, MONDO:0008681

30 Dec 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

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

30 Dec 2025, 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 Embryonal tumour of possible germline origin. Sources: Expert Review Green,ClinGen 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