WDR4 Chromosome 21
WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit
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What This Gene Does
This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene is excluded as a candidate for a form of nonsyndromic deafness (DFNB10), but is still a candidate for other disorders mapped to 21q22.3 as well as for the development of Down syndrome phenotypes. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2012]
Gene Info
Gene Group
WD repeat domain containing
Locus Type
gene with protein product
Location
21q22.3
Ensembl
ENSG00000160193
Associated Conditions (7)
Inborn genetic diseases
Microcephaly
growth deficiency
seizures
and brain malformations
Galloway-Mowat syndrome 6
Galloway-Mowat syndrome
Key Variants
RS147294240
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS370431009
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS370450877
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS540202480
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS751142345
Conflicting classifications of pathogenicity
Inborn genetic diseases, Microcephaly, growth deficiency
Health Risk
RS1021769927
Likely pathogenic
Microcephaly, growth deficiency, seizures
Health Risk
RS1292041526
Likely pathogenic
Microcephaly, growth deficiency, seizures
Health Risk
RS2517012381
Likely pathogenic
Galloway-Mowat syndrome 6, Galloway-Mowat syndrome 6
Health Risk
RS779449710
Likely pathogenic
Galloway-Mowat syndrome 6, Galloway-Mowat syndrome, Galloway-Mowat syndrome 6
Health Risk
RS1555976610
Pathogenic
Galloway-Mowat syndrome 6, Galloway-Mowat syndrome 6
Health Risk
RS1569314907
Pathogenic
Galloway-Mowat syndrome 6, Galloway-Mowat syndrome 6
Health Risk
RS201013104
Pathogenic
Health Risk
All Variants (16)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS147294240 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS370431009 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS370450877 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS540202480 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS751142345 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Microcephaly, growth deficiency |
| RS1021769927 | Health Risk | Likely pathogenic | Microcephaly, growth deficiency, seizures |
| RS1292041526 | Health Risk | Likely pathogenic | Microcephaly, growth deficiency, seizures |
| RS2517012381 | Health Risk | Likely pathogenic | Galloway-Mowat syndrome 6, Galloway-Mowat syndrome 6 |
| RS779449710 | Health Risk | Likely pathogenic | Galloway-Mowat syndrome 6, Galloway-Mowat syndrome, Galloway-Mowat syndrome 6 |
| RS1555976610 | Health Risk | Pathogenic | Galloway-Mowat syndrome 6, Galloway-Mowat syndrome 6 |
| RS1569314907 | Health Risk | Pathogenic | Galloway-Mowat syndrome 6, Galloway-Mowat syndrome 6 |
| RS201013104 | Health Risk | Pathogenic | — |
| RS2057934167 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS372155244 | Health Risk | Pathogenic | — |
| RS765059645 | Health Risk | Pathogenic | — |
| RS776760122 | Health Risk | Pathogenic | Galloway-Mowat syndrome 6, Galloway-Mowat syndrome 6 |