Severe microcephalyGene: WDFY3
As discussed with the GMS Neurology Specialist Test Group webex call 11thJuly 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red
Created: 29 Jul 2019, 4:18 p.m. | Last Modified: 29 Jul 2019, 4:18 p.m.
Panel Version: 1.62
Comment on list classification: Added to panel based on new OMIM gene/phenotype association but kept rating as red as only 1 case so far (PMID:27008544). No disease recorded yet in DD-G2P for WDFY3.
Created: 15 Aug 2017, 2:09 p.m.
In affected members of a family with autosomal dominant primary microcephaly-18 (MCPH18; MIM:617520), Kadir et al. (2016, PMID:27008544) identified a heterozygous c.7909C-T transition in the WDFY3 gene (R2637W).
Created: 15 Aug 2017, 2:08 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
?Microcephaly 18, primary, autosomal dominant, 617520
Source NHS GMS was added to WDFY3.
This gene has been classified as Red List (Low Evidence).
WDFY3 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Other
WDFY3 was created by rfoulger