Rare multisystem ciliopathy disorders
Gene: WDR63
WDR63 (WD repeat domain 63)
EnsemblGeneIds (GRCh38): ENSG00000162643
EnsemblGeneIds (GRCh37): ENSG00000162643
WDR63 is in 2 panels
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 DNAI3Created: 7 May 2020, 10:56 a.m. | Last Modified: 7 May 2020, 10:56 a.m.
Panel Version: 1.124
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Other
- Phenotypes
-
- occipital encephalocele and inconsistent brain lobulation
- ciliopathy-like disorder
- Tags
- Clinvar variants
- Variants in WDR63
- Penetrance
- Complete
- 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.
15 Jun 2017, Gel status: 0
Added New Source
Rebecca Foulger (Genomics England curator)WDR63 was added to Rare multisystem ciliopathy disorderspanel. Sources: Other
15 Jun 2017, Gel status: 0
Created
Rebecca Foulger (Genomics England curator)WDR63 was created by rfoulger