WDFY3 Chromosome 4
WD repeat and FYVE domain containing 3
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What This Gene Does
This gene encodes a phosphatidylinositol 3-phosphate-binding protein that functions as a master conductor for aggregate clearance by autophagy. This protein shuttles from the nuclear membrane to colocalize with aggregated proteins, where it complexes with other autophagic components to achieve macroautophagy-mediated clearance of these aggregated proteins. However, it is not necessary for starvation-induced macroautophagy. [provided by RefSeq, May 2010]
Gene Info
Gene Group
"Zinc fingers FYVE-type|WD repeat domain containing|BEACH domain containing |Armadillo like helical domain containing"
Locus Type
gene with protein product
Location
4q21.23
Ensembl
ENSG00000163625
Associated Conditions (15)
Neurodevelopmental delay
Microcephaly 18
primary
autosomal dominant
Inborn genetic diseases
WDFY3-related disorder
Esophageal atresia/tracheoesophageal fistula
Prostate cancer
Autism spectrum disorder
Macrocephaly
Neurodevelopmental disorder
Intellectual disability
autosomal dominant 1
-
See cases
Key Variants
RS1131692269
Conflicting classifications of pathogenicity
Neurodevelopmental delay, Neurodevelopmental delay
Health Risk
RS1322001449
Conflicting classifications of pathogenicity
Neurodevelopmental delay, Microcephaly 18, primary
Health Risk
RS142360058
Conflicting classifications of pathogenicity
Inborn genetic diseases, WDFY3-related disorder, Microcephaly 18
Health Risk
RS144442290
Conflicting classifications of pathogenicity
Microcephaly 18, primary, autosomal dominant
Health Risk
RS149067356
Conflicting classifications of pathogenicity
Microcephaly 18, primary, autosomal dominant
Health Risk
RS371260814
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS374371115
Conflicting classifications of pathogenicity
Inborn genetic diseases, Microcephaly 18, primary
Health Risk
RS751185435
Conflicting classifications of pathogenicity
Esophageal atresia/tracheoesophageal fistula, Inborn genetic diseases, Esophageal atresia/tracheoesophageal fistula
Health Risk
RS760479868
Conflicting classifications of pathogenicity
Microcephaly 18, primary, autosomal dominant
Health Risk
RS1353660689
Likely pathogenic
Neurodevelopmental delay, Neurodevelopmental delay
Health Risk
RS1578183451
Likely pathogenic
Prostate cancer, Prostate cancer
Health Risk
RS1733238245
Likely pathogenic
Microcephaly 18, primary, autosomal dominant
Health Risk
All Variants (54)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS750692650 | Health Risk | Pathogenic | — |
| RS752218424 | Health Risk | Pathogenic | Neurodevelopmental delay, Neurodevelopmental delay |
| RS866536893 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly 18, primary, autosomal dominant |
| RS878853167 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental delay, Neurodevelopmental delay |