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Newborns main panel

Gene: WT1

Green List (high evidence)
WT1 (Wilms tumor 1)
EnsemblGeneIds (GRCh38): ENSG00000184937
EnsemblGeneIds (GRCh37): ENSG00000184937
OMIM: 607102, Gene2Phenotype
WT1 is in 18 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Sex mismatch/DSD - phenotype can include differences of sex development in one or both sexes. This could be the cause of an apparent mismatch between the genotypic sex and the phenotypic sex entered at the point of sample registration.

Additional Information: DSD can occur in males and females.
Created: 26 Sep 2024, 4:20 p.m. | Last Modified: 26 Sep 2024, 4:20 p.m.
Panel Version: 0.469
Created: 26 Sep 2024, 4:20 p.m.
Last Modified: 26 Sep 2024, 4:20 p.m.
Panel version: 0.469

Mafalda Gomes (Genomics England Curator)

Many individuals with Denys-Drash syndrome harbor heterozygous missense variants in exon 8 or 9 and may act in a dominant-negative manner (Royer-Pokora et al., 2004; PMID: 15150775), while the majority of variants reported for Wilms tumor type 1 are loss-of-function variants.
Created: 28 Jun 2023, 3:38 p.m. | Last Modified: 28 Jun 2023, 3:38 p.m.
Panel Version: 0.145
The mechanisms of pathogenicity are loss-of-function (LOF) and dominant-negative (DN).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4366886/?report=reader https://search.clinicalgenome.org/kb/genes/HGNC:12796
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.135
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.145

History Filter Activity

26 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: WT1.

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Wilms Tumour type 1/ Denys-Drash syndrome for gene: WT1

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to WT1. Added phenotypes Wilms Tumour type 1/ Denys-Drash syndrome for gene: WT1 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

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

Mafalda Gomes (Genomics England Curator)

gene: WT1 was added gene: WT1 was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: WT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: WT1 were set to Wilms Tumour type 1/ Denys-Drash syndrome