Neurological ciliopathies
Gene: WDR63Added new-gene-name tag, new approved HGNC gene symbol for WDR63 is DNAI3Created: 7 May 2020, 11:02 a.m. | Last Modified: 7 May 2020, 11:02 a.m.
Panel Version: 1.7
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
Tag new-gene-name tag was added to gene: WDR63.
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