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Intellectual disability syndromic and non-syndromic

Gene: WDR26

Green List (high evidence)

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

1 review

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Skraban-Deardorff syndrome, MIM#617616
OMIM
617424
Clinvar variants
Variants in WDR26
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Jul 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: wdr26 has been classified as Green List (High Evidence).

22 Jul 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: WDR26 were changed from to Skraban-Deardorff syndrome, MIM#617616

22 Jul 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: WDR26 were set to

22 Jul 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: WDR26 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: WDR26 was added gene: WDR26 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: WDR26 was set to Unknown