Disorders of sex development

Gene: WT1

Green List (high evidence)

WT1 (Wilms tumor 1)
EnsemblGeneIds (GRCh38): ENSG00000184937
EnsemblGeneIds (GRCh37): ENSG00000184937
OMIM: 607102, Gene2Phenotype
WT1 is in 21 panels

4 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 29 Apr 2019, 9:46 a.m.

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Changed from 'other' to reflect review.
Created: 3 Apr 2017, 5:08 p.m.

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotypes in OMIM and G2P / DD. At least 11 variants reported in Denys-Drash syndrome 194080, 5 in Frasier syndrome 136680 and one in Meacham syndrome 608978
Created: 12 Sep 2016, 2:59 p.m.
Comment on mode of inheritance: Monoallelic inheritance and somatic mutation recorded as MOI for Denys-Drash syndrome 194080; Frasier syndrome 136680. MOI unknown for Meacham syndrome 608978
Created: 12 Sep 2016, 2:55 p.m.
Comment on phenotypes: Variants also reported in Mesothelioma, somatic 156240, Nephrotic syndrome, type 4 256370 and Wilms tumor, type 1 194070
Created: 12 Sep 2016, 2:52 p.m.

John Achermann (UCL Institute of Child Health)

Green List (high evidence)

Deletion of WT1 and mild genital changes (usually) can be part of WAGR syndrome. Typically exon 9 splice mutations cause Frasier syndrome, with testicular dysgenesis, gonadoblastoma risk, severe underandrogenization, and milder renal abnormalities such a FSGS. Other changes (often point mutations in zinc fingers) cause Denys-Drash syndrome, with severe hypospadias, MCGS, and Wilms Tumor risk. Meacham syndrome with diaphragmatic hernia also reported. There can be phenotypic and genotypic overlap. Careful consideration needed for reporting back as counselling needed for tumor risk and associated features.
Created: 4 Feb 2016, 4:23 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Testicular dysgenesis with renal abnormalities

History Filter Activity

3 Apr 2017, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for WT1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

21 Dec 2016, Gel status: 3

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 21/12/2016

12 Sep 2016, Gel status: 3

Upload gene information

Sarah Leigh (Genomics England Curator)

WT1 was added to Disorders of sex developmentpanel. Sources: Expert Review,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN

12 Sep 2016, Gel status: 4

clearsources

Sarah Leigh (Genomics England Curator)

WT1All sources for gene: WT1 were removed

12 Sep 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

12 Sep 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for WT1 was changed to Other - please specifiy in evaluation comments

12 Sep 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for WT1 were set to Denys-Drash syndrome 194080; Frasier syndrome 136680; Meacham syndrome 608978

12 Sep 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for WT1 were set to Denys-Drash syndrome 194080;

23 May 2016, Gel status: 4

Approved Gene

Sarah Leigh (Genomics England Curator)

This proposed gene was validated and added to this panel

23 May 2016, Gel status: 0

Upload gene information

Sarah Leigh (Genomics England Curator)

WT1 was added to Disorders of sex developmentpanel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services

4 Feb 2016, Gel status: 0

Added New Source

John Achermann (UCL Institute of Child Health)

WT1 was added to Disorders of sex developmentpanel. Sources: Expert Review

4 Feb 2016, Gel status: 0

Created

John Achermann (UCL Institute of Child Health)

WT1 was created by John Achermann