Severe microcephaly

Gene: WDFY3

Red List (low evidence)

WDFY3 (WD repeat and FYVE domain containing 3)
EnsemblGeneIds (GRCh38): ENSG00000163625
EnsemblGeneIds (GRCh37): ENSG00000163625
OMIM: 617485, Gene2Phenotype
WDFY3 is in 3 panels

1 review

Rebecca Foulger (Genomics England curator)

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.
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).
15 Aug 2017, 2:08 p.m.

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

Phenotypes
?Microcephaly 18, primary, autosomal dominant, 617520

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Other
Phenotypes
  • ?Microcephaly 18, primary, autosomal dominant, 617520
OMIM
617485
Clinvar variants
Variants in WDFY3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

15 Aug 2017, Gel status: 1

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Red List (Low Evidence).

15 Aug 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

WDFY3 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Other

15 Aug 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

WDFY3 was created by rfoulger