1. Genes and Genomic Entities
  2. ISCA-37401-Loss

ISCA-37401-Loss

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Green ISCA-37401-Loss Region in Adult solid tumours for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.42

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome
  • 194072
Green ISCA-37401-Loss Region in Childhood solid tumours


Level 2: Cancer susceptibility
Version 5.10
Latest signed off version: v5.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome
  • 194072
Green ISCA-37401-Loss Region in Sporadic aniridia


Level 2: Ophthalmology
Version 3.6
Latest signed off version: v3.2 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome
  • 194072
Green ISCA-37401-Loss Region in Unexplained kidney failure in young people

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.125

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome
  • 194072
Green ISCA-37401-Loss Region in Differences in sex development


Level 2: Endocrinology
Version 4.17
Latest signed off version: v4.5 (1 May 2024)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome
  • 194072
Green ISCA-37401-Loss Region in Intellectual disability


Level 2: Developmental disorders
Version 9.370
Latest signed off version: v9.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • ClinGen
    Phenotypes
    • Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome
    • 194072
    Green ISCA-37401-Loss Region in Unexplained young onset end-stage renal disease - additional genes


    Level 2: Renal
    Version 1.6
    Latest signed off version: v1.1 (30 Apr 2025)

    Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    Phenotypes
    • Wilms tumor, aniridia, genitourinary anomalies and impaired intellectual development syndrome, OMIM:194072