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Epileptic encephalopathy

Gene: WDR45

Green List (high evidence)

WDR45 (WD repeat domain 45)
EnsemblGeneIds (GRCh38): ENSG00000196998
EnsemblGeneIds (GRCh37): ENSG00000196998
OMIM: 300526, Gene2Phenotype
WDR45 is in 13 panels

5 reviews

Amy McTague (UCL Institute of Child Health)

Green List (high evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Publications

  • Saitsu et al (2013) Nat Genet. 45(4):445-9

Variants in this GENE are reported as part of current diagnostic practice

Natalie Trump (NHS - Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Publications

  • Saitsu et al (2013) Nat Genet. 45(4):445-9

Variants in this GENE are reported as part of current diagnostic practice

Manju Kurian (UCL-Institute of Child Health)

Green List (high evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Publications

  • Saitsu et al (2013) Nat Genet. 45(4):445-9

Variants in this GENE are reported as part of current diagnostic practice

Richard Scott (North Thames GMC/UCL)

Green List (high evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Publications

  • Saitsu et al (2013) Nat Genet. 45(4):445-9

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: X-linked dominant confirmed on G2P and OMIM.
Created: 29 Jan 2016, 11:54 a.m.

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
OMIM
300526
Clinvar variants
Variants in WDR45
Penetrance
Complete
Publications
  • Saitsu et al (2013) Nat Genet. 45(4):445-9
Panels with this gene

History Filter Activity

29 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

29 Jan 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for WDR45 was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

WDR45 was added to Epileptic encephalopathypanel. Source: Expert Review Green

13 Nov 2015, Gel status: 0

gel status update

GEL ()

The Gel status was updated for this whole panel

12 Nov 2015, Gel status: 0

Approved Gene

Ellen McDonagh (Genomics England Curator)

This proposed gene was validated and added to this panel

12 Nov 2015, Gel status: 0

Created

Richard Scott (North Thames GMC/UCL)

WDR45 was created by Reviewer_03

12 Nov 2015, Gel status: 0

Added New Source

Richard Scott (North Thames GMC/UCL)

WDR45 was added to Epileptic encephalopathypanel. Sources: Expert Review