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  2. Neurological ciliopathies
  3. WDR63
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Neurological ciliopathies

Gene: WDR63

Red List (low evidence)
WDR63 (WD repeat domain 63)
EnsemblGeneIds (GRCh38): ENSG00000162643
EnsemblGeneIds (GRCh37): ENSG00000162643
WDR63 is in 2 panels

2 reviews

Catherine Snow (Genomics England)

Added new-gene-name tag, new approved HGNC gene symbol for WDR63 is DNAI3
Created: 7 May 2020, 11:02 a.m. | Last Modified: 7 May 2020, 11:02 a.m.
Panel Version: 1.7
Created: 7 May 2020, 11:02 a.m.
Last Modified: 7 May 2020, 11:02 a.m.
Panel version: 1.7

Rebecca Foulger (Genomics England curator)

Added 'deletions' tag based on GRD2017 poster abstract P26 details.
Created: 15 Jun 2017, 10:58 a.m.
Added to panel from Genomics of Rare Disease 2017 conference, Hinxton, April 2017. Poster P26 (Lindstrand et al) report an intragenic heterozygous in-frame WDR63 deletion in a fetal case with occipital encepahlocele and inconsistent brain lobulation. The deletion spans exons 14-17, and may result in a dominant negative form of WDR63.
Created: 15 Jun 2017, 10:58 a.m.

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

Phenotypes
occipital encephalocele and inconsistent brain lobulation; ciliopathy-like disorder

Created: 15 Jun 2017, 10:58 a.m.

Panel version: Imported from Rare multisystem ciliopathy disorders panel version 1.27

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • occipital encephalocele and inconsistent brain lobulation
  • ciliopathy-like disorder
Tags
new-gene-name
Clinvar variants
Variants in WDR63
Penetrance
None
Panels with this gene

History Filter Activity

7 May 2020, Gel status: 1

Added Tag

Catherine Snow (Genomics England)

Tag new-gene-name tag was added to gene: WDR63.

25 Jul 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: WDR63 was added gene: WDR63 was added to Neurological ciliopathies. Sources: Expert Review Red Mode of inheritance for gene: WDR63 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: WDR63 were set to occipital encephalocele and inconsistent brain lobulation; ciliopathy-like disorder