Aniridia

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: 2.15

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.

28 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ready to be promoted to version 1

7 Jan 2019, Gel status: 4

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Region: isca-37401-loss has been classified as Green List (High Evidence).

7 Jan 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

Region: ISCA-37401-Loss was added Region: ISCA-37401-Loss was added to Aniridia. 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