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Fetal anomalies

Gene: WDR26

Amber List (moderate evidence)
WDR26 (WD repeat domain 26)
EnsemblGeneIds (GRCh38): ENSG00000162923
EnsemblGeneIds (GRCh37): ENSG00000162923
OMIM: 617424, Gene2Phenotype
WDR26 is in 5 panels

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Created: 2 Feb 2022, 4:06 a.m.
Last Modified: 2 Feb 2022, 4:06 a.m.
Panel version: 0.3085

Seb Lunke (Victorian Clinical Genetics Services)

Comment on list classification: Craniofacial features to subtle for US, brain abnormalities are not always present and also subtle.
Created: 1 Feb 2022, 12:29 a.m. | Last Modified: 1 Feb 2022, 12:29 a.m.
Panel Version: 0.3001
Created: 1 Feb 2022, 12:29 a.m.
Last Modified: 1 Feb 2022, 12:29 a.m.
Panel version: 0.3001

Paul De Fazio (Victorian Clinical Genetics Services)

Green List (high evidence)

More than 20 individuals reported, all de novo, most with LoF variants but some missense reported.

Phenotypes include intellectual disability with delayed speech, a history of febrile and/or non-febrile seizures, and a wide-based, spastic, and/or stiff-legged gait. Subjects share a set of common facial features that include a prominent maxilla and upper lip that readily reveal the upper gingiva, widely spaced teeth, and a broad nasal tip.
Created: 22 Jul 2021, 12:02 a.m. | Last Modified: 22 Jul 2021, 12:02 a.m.
Panel Version: 0.3995

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Skraban-Deardorff syndrome

Publications

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

Created: 22 Jul 2021, 12:02 a.m.
Last Modified: 22 Jul 2021, 12:02 a.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.3995

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Genomics England PanelApp
Phenotypes
  • Skraban-Deardorff syndrome, MIM#617616
  • Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features
OMIM
617424
Clinvar variants
Variants in WDR26
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Feb 2022, Gel status: 2

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: wdr26 has been classified as Amber List (Moderate Evidence).

1 Feb 2022, Gel status: 2

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Phenotypes for gene: WDR26 were changed from Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features to Skraban-Deardorff syndrome, MIM#617616; Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features

1 Feb 2022, Gel status: 2

Set publications

Seb Lunke (Victorian Clinical Genetics Services)

Publications for gene: WDR26 were set to

1 Feb 2022, Gel status: 2

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: wdr26 has been classified as Amber List (Moderate Evidence).

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: WDR26 was added gene: WDR26 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: WDR26 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: WDR26 were set to Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features