DMRT1 Chromosome 9
Doublesex and mab-3 related transcription factor 1
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What This Gene Does
This gene is found in a cluster with two other members of the gene family, having in common a zinc finger-like DNA-binding motif (DM domain). The DM domain is an ancient, conserved component of the vertebrate sex-determining pathway that is also a key regulator of male development in flies and nematodes. This gene exhibits a gonad-specific and sexually dimorphic expression pattern. Defective testicular development and XY feminization occur when this gene is hemizygous. [provided by RefSeq, Jul 2008]
Associated Conditions (4)
Non-obstructive azoospermia
46
XY sex reversal 4
Male infertility with azoospermia or oligozoospermia due to single gene mutation
Key Variants
RS140506267
Conflicting classifications of pathogenicity
Non-obstructive azoospermia, Non-obstructive azoospermia
Health Risk
RS1057519638
Likely pathogenic
46, XY sex reversal 4, 46
Health Risk
RS1410631980
Likely pathogenic
Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation
Health Risk
RS2132532372
Likely pathogenic
Non-obstructive azoospermia, Non-obstructive azoospermia
Health Risk
RS2541006365
Likely pathogenic
Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation
Health Risk
RS767829750
Likely pathogenic
Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation
Health Risk
RS778098130
Likely pathogenic
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140506267 | Health Risk | Conflicting classifications of pathogenicity | Non-obstructive azoospermia, Non-obstructive azoospermia |
| RS1057519638 | Health Risk | Likely pathogenic | 46, XY sex reversal 4, 46 |
| RS1410631980 | Health Risk | Likely pathogenic | Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation |
| RS2132532372 | Health Risk | Likely pathogenic | Non-obstructive azoospermia, Non-obstructive azoospermia |
| RS2541006365 | Health Risk | Likely pathogenic | Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation |
| RS767829750 | Health Risk | Likely pathogenic | Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation |
| RS778098130 | Health Risk | Likely pathogenic | — |