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| Differences in sex development v4.27 | DMRT1 |
Ida Ertmanska changed review comment from: PMID: 36110220 Zidoune H, et al., 2022 Large study of developmental disorders cohort from North Africa. See suppl material for case details. P_73 - 29 days old male, het for de novo variant NM_021951.3(DMRT1):c.149G>C (p.Ser50Thr); phenotype: Genital bud, preputial orifice and perineal orifice, bifid labioscrotal folds, BC, NPG. Patient was also hemizygous for MAMLD1:NM_005491:c.C2075T:p.A692V - MAMLD1 is associated with Hypospadias 2, X-linked, OMIM:300758. Difficult to decouple the effect of each variant. PMID: 33057194 Kaplanis et al., 2020 Large exome seq study of Developmental Disorders cohort. 2 patients identified with gonadal dysgenesis and DMRT1 variants: P_19455: het for NM_021951.3(DMRT1):c.673C>A (p.Leu225Ile) P_24289: het for NM_021951.3(DMRT1):c.962C>A (p.Ala321Glu) These variants are not reported in gnomAD v4.1.1. PMID: 31745530 Buonocore et al., 2019 Study of a patient cohort with complete gonadal dysgenesis (CGD) (n = 27) and partially virilized 46,XY DSD (pvDSD) (n = 25). A patient with CGD and female genital phenotype was heterozygous for variant in DMRT1: c.240G>C, p.Arg80Ser - not reported in gnomAD v4.1.1, inheritance listed as sporadic. Some support for pathogenicity from protein computer modelling. PMID: 27711951 Chauhan et al., 2017 Study of 10 patients with variable DSD. Method: direct sequencing of SRY, NR5A1, SOX9, DAX1, DHH, DMRT1 genes. One patient with complete gonadal dysgenesis was found to be heterozygous for DMRT1: c.416T>A, p.Leu139Gln. PMID: 28295047 Fan et al., 2017 P19 - diagnosed with CGD, 46, XY karyotype with normal SRY; harboured het DMRT1 variant c.251A > G, p.Tyr84Cys - maternally inherited, labelled VUS. As DMRT1 is only expressed in male-specific gonads, authors hypothesise the variant would not be expected to cause a phenotype in the mother. This variant has total of 7 hets reported in gnomAD v4. DMRT1 association with AD "46 XY differences of sex development" has been classified as Definitive in ClinGen (Reproduction and Infertility Expert Panel, 03/18/2026). A separate Definitive association was made between DMRT1 and AD spermatogenic failure. DMRT1 is not yet associated with a disease entity in OMIM (accessed 25th Sept 2026).; to: PMID: 36110220 Zidoune H, et al., 2022 Large study of developmental disorders cohort from North Africa. See suppl material for case details. P_73 - 29 days old male, het for de novo variant NM_021951.3(DMRT1):c.149G>C (p.Ser50Thr); phenotype: Genital bud, preputial orifice and perineal orifice, bifid labioscrotal folds, BC, NPG. Patient was also hemizygous for MAMLD1:NM_005491:c.C2075T:p.A692V - MAMLD1 is associated with Hypospadias 2, X-linked, OMIM:300758. Difficult to decouple the effect of each variant. PMID: 31745530 Buonocore et al., 2019 Study of a patient cohort with complete gonadal dysgenesis (CGD) (n = 27) and partially virilized 46,XY DSD (pvDSD) (n = 25). A patient with CGD and female genital phenotype was heterozygous for variant in DMRT1: c.240G>C, p.Arg80Ser - not reported in gnomAD v4.1.1, inheritance listed as sporadic. Some support for pathogenicity from protein computer modelling. PMID: 27711951 Chauhan et al., 2017 Study of 10 patients with 46,XY karyotype and variable DSD. Method: direct sequencing of SRY, NR5A1, SOX9, DAX1, DHH, DMRT1 genes. One patient with complete gonadal dysgenesis was found to be heterozygous for DMRT1: c.416T>A, p.Leu139Gln. PMID: 28295047 Fan et al., 2017 P19 - diagnosed with CGD, 46, XY karyotype with normal SRY; harboured het DMRT1 variant c.251A > G, p.Tyr84Cys - maternally inherited, labelled VUS. As DMRT1 is only expressed in male-specific gonads, authors hypothesise the variant would not be expected to cause a phenotype in the mother. This variant has total of 7 hets reported in gnomAD v4. DMRT1 association with AD "46 XY differences of sex development" has been classified as Definitive in ClinGen (Reproduction and Infertility Expert Panel, 03/18/2026). A separate Definitive association was made between DMRT1 and AD spermatogenic failure. DMRT1 is not yet associated with a disease entity in OMIM (accessed 25th Sept 2026). |
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| Differences in sex development v4.27 | DMRT1 | Ida Ertmanska Mode of pathogenicity for gene: DMRT1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences in sex development v4.26 | DMRT1 | Ida Ertmanska edited their review of gene: DMRT1: Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences in sex development v4.26 | DMRT1 | Ida Ertmanska changed review comment from: Comment on list classification: Based on available evidence, this gene can be promoted to Green on Differences in sex development at the next update, with MOI set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted.; to: Comment on list classification: There are now more than 3 cases reported in literature with heterozygous DMRT1 missense variants and gonadal dysgenesis. Based on available evidence, this gene can be promoted to Green on Differences in sex development at the next update, with MOI set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences in sex development v4.26 | DMRT1 | Ida Ertmanska Phenotypes for gene: DMRT1 were changed from 46,XY disorders/differences of sex development to 46 XY differences of sex development, MONDO:0020040 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences in sex development v4.25 | DMRT1 | Ida Ertmanska Publications for gene: DMRT1 were set to 11870074; 26139570; 24934491; 39936125 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences in sex development v4.24 | DMRT1 | Ida Ertmanska Tag Q3_26_promote_green tag was added to gene: DMRT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences in sex development v4.24 | DMRT1 | Ida Ertmanska commented on gene: DMRT1: Comment on list classification: Based on available evidence, this gene can be promoted to Green on Differences in sex development at the next update, with MOI set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences in sex development v4.24 | DMRT1 |
Ida Ertmanska changed review comment from: PMID: 36110220 Zidoune H, et al., 2022 P_73 - 29 days old male, het for de novo variant NM_021951.3(DMRT1):c.149G>C (p.Ser50Thr); phenotype: Genital bud, preputial orifice and perineal orifice, bifid labioscrotal folds, BC, NPG. Patient was also hemizygous for MAMLD1:NM_005491:c.C2075T:p.A692V - MAMLD1 is associated with Hypospadias 2, X-linked, OMIM:300758. Difficult to decouple the effect of each variant. PMID: 33057194 Kaplanis et al., 2020 Large exome seq study of Developmental Disorders cohort. 2 patients identified with gonadal dysgenesis and DMRT1 variants: P_19455: het for NM_021951.3(DMRT1):c.673C>A (p.Leu225Ile) P_24289: het for NM_021951.3(DMRT1):c.962C>A (p.Ala321Glu) These variants are not reported in gnomAD v4.1.1. PMID: 31745530 Buonocore et al., 2019 Study of a patient cohort with complete gonadal dysgenesis (CGD) (n = 27) and partially virilized 46,XY DSD (pvDSD) (n = 25). A patient with CGD and female genital phenotype was heterozygous for variant in DMRT1: c.240G>C, p.Arg80Ser - not reported in gnomAD v4.1.1, inheritance listed as sporadic. Some support for pathogenicity from protein computer modelling. PMID: 27711951 Chauhan et al., 2017 Study of 10 patients with variable DSD. Method: direct sequencing of SRY, NR5A1, SOX9, DAX1, DHH, DMRT1 genes. One patient with complete gonadal dysgenesis was found to be heterozygous for DMRT1: c.416T>A, p.Leu139Gln. PMID: 28295047 Fan et al., 2017 P19 - diagnosed with CGD, 46, XY karyotype with normal SRY; harboured het DMRT1 variant c.251A > G, p.Tyr84Cys - maternally inherited, labelled VUS. As DMRT1 is only expressed in male-specific gonads, authors hypothesise the variant would not be expected to cause a phenotype in the mother. This variant has total of 7 hets reported in gnomAD v4. DMRT1 association with AD "46 XY differences of sex development" has been classified as Definitive in ClinGen (Reproduction and Infertility Expert Panel, 03/18/2026). A separate Definitive association was made between DMRT1 and AD spermatogenic failure. DMRT1 is not yet associated with a disease entity in OMIM (accessed 25th Sept 2026).; to: PMID: 36110220 Zidoune H, et al., 2022 Large study of developmental disorders cohort from North Africa. See suppl material for case details. P_73 - 29 days old male, het for de novo variant NM_021951.3(DMRT1):c.149G>C (p.Ser50Thr); phenotype: Genital bud, preputial orifice and perineal orifice, bifid labioscrotal folds, BC, NPG. Patient was also hemizygous for MAMLD1:NM_005491:c.C2075T:p.A692V - MAMLD1 is associated with Hypospadias 2, X-linked, OMIM:300758. Difficult to decouple the effect of each variant. PMID: 33057194 Kaplanis et al., 2020 Large exome seq study of Developmental Disorders cohort. 2 patients identified with gonadal dysgenesis and DMRT1 variants: P_19455: het for NM_021951.3(DMRT1):c.673C>A (p.Leu225Ile) P_24289: het for NM_021951.3(DMRT1):c.962C>A (p.Ala321Glu) These variants are not reported in gnomAD v4.1.1. PMID: 31745530 Buonocore et al., 2019 Study of a patient cohort with complete gonadal dysgenesis (CGD) (n = 27) and partially virilized 46,XY DSD (pvDSD) (n = 25). A patient with CGD and female genital phenotype was heterozygous for variant in DMRT1: c.240G>C, p.Arg80Ser - not reported in gnomAD v4.1.1, inheritance listed as sporadic. Some support for pathogenicity from protein computer modelling. PMID: 27711951 Chauhan et al., 2017 Study of 10 patients with variable DSD. Method: direct sequencing of SRY, NR5A1, SOX9, DAX1, DHH, DMRT1 genes. One patient with complete gonadal dysgenesis was found to be heterozygous for DMRT1: c.416T>A, p.Leu139Gln. PMID: 28295047 Fan et al., 2017 P19 - diagnosed with CGD, 46, XY karyotype with normal SRY; harboured het DMRT1 variant c.251A > G, p.Tyr84Cys - maternally inherited, labelled VUS. As DMRT1 is only expressed in male-specific gonads, authors hypothesise the variant would not be expected to cause a phenotype in the mother. This variant has total of 7 hets reported in gnomAD v4. DMRT1 association with AD "46 XY differences of sex development" has been classified as Definitive in ClinGen (Reproduction and Infertility Expert Panel, 03/18/2026). A separate Definitive association was made between DMRT1 and AD spermatogenic failure. DMRT1 is not yet associated with a disease entity in OMIM (accessed 25th Sept 2026). |
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| Differences in sex development v4.24 | DMRT1 | Ida Ertmanska edited their review of gene: DMRT1: Changed publications to: 27711951, 28295047, 31745530, 33057194, 36110220 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences in sex development v4.24 | DMRT1 |
Ida Ertmanska changed review comment from: PMID: 33057194 Kaplanis et al., 2020 Large exome seq study of Developmental Disorders cohort. 2 patients identified with gonadal dysgenesis and DMRT1 variants: P_19455: het for NM_021951.3(DMRT1):c.673C>A (p.Leu225Ile) P_24289: het for NM_021951.3(DMRT1):c.962C>A (p.Ala321Glu) These variants are not reported in gnomAD v4.1.1. PMID: 31745530 Buonocore et al., 2019 Study of a patient cohort with complete gonadal dysgenesis (CGD) (n = 27) and partially virilized 46,XY DSD (pvDSD) (n = 25). A patient with CGD and female genital phenotype was heterozygous for variant in DMRT1: c.240G>C, p.Arg80Ser - not reported in gnomAD v4.1.1, inheritance listed as sporadic. Some support for pathogenicity from protein computer modelling. PMID: 27711951 Chauhan et al., 2017 Study of 10 patients with variable DSD. Method: direct sequencing of SRY, NR5A1, SOX9, DAX1, DHH, DMRT1 genes. One patient with complete gonadal dysgenesis was found to be heterozygous for DMRT1: c.416T>A, p.Leu139Gln. PMID: 28295047 Fan et al., 2017 P19 - diagnosed with CGD, 46, XY karyotype with normal SRY; harboured het DMRT1 variant c.251A > G, p.Tyr84Cys - maternally inherited, labelled VUS. As DMRT1 is only expressed in male-specific gonads, authors hypothesise the variant would not be expected to cause a phenotype in the mother. This variant has total of 7 hets reported in gnomAD v4. DMRT1 association with AD "46 XY differences of sex development" has been classified as Definitive in ClinGen (Reproduction and Infertility Expert Panel, 03/18/2026). A separate Definitive association was made between DMRT1 and AD spermatogenic failure. DMRT1 is not yet associated with a disease entity in OMIM (accessed 25th Sept 2026).; to: PMID: 36110220 Zidoune H, et al., 2022 P_73 - 29 days old male, het for de novo variant NM_021951.3(DMRT1):c.149G>C (p.Ser50Thr); phenotype: Genital bud, preputial orifice and perineal orifice, bifid labioscrotal folds, BC, NPG. Patient was also hemizygous for MAMLD1:NM_005491:c.C2075T:p.A692V - MAMLD1 is associated with Hypospadias 2, X-linked, OMIM:300758. Difficult to decouple the effect of each variant. PMID: 33057194 Kaplanis et al., 2020 Large exome seq study of Developmental Disorders cohort. 2 patients identified with gonadal dysgenesis and DMRT1 variants: P_19455: het for NM_021951.3(DMRT1):c.673C>A (p.Leu225Ile) P_24289: het for NM_021951.3(DMRT1):c.962C>A (p.Ala321Glu) These variants are not reported in gnomAD v4.1.1. PMID: 31745530 Buonocore et al., 2019 Study of a patient cohort with complete gonadal dysgenesis (CGD) (n = 27) and partially virilized 46,XY DSD (pvDSD) (n = 25). A patient with CGD and female genital phenotype was heterozygous for variant in DMRT1: c.240G>C, p.Arg80Ser - not reported in gnomAD v4.1.1, inheritance listed as sporadic. Some support for pathogenicity from protein computer modelling. PMID: 27711951 Chauhan et al., 2017 Study of 10 patients with variable DSD. Method: direct sequencing of SRY, NR5A1, SOX9, DAX1, DHH, DMRT1 genes. One patient with complete gonadal dysgenesis was found to be heterozygous for DMRT1: c.416T>A, p.Leu139Gln. PMID: 28295047 Fan et al., 2017 P19 - diagnosed with CGD, 46, XY karyotype with normal SRY; harboured het DMRT1 variant c.251A > G, p.Tyr84Cys - maternally inherited, labelled VUS. As DMRT1 is only expressed in male-specific gonads, authors hypothesise the variant would not be expected to cause a phenotype in the mother. This variant has total of 7 hets reported in gnomAD v4. DMRT1 association with AD "46 XY differences of sex development" has been classified as Definitive in ClinGen (Reproduction and Infertility Expert Panel, 03/18/2026). A separate Definitive association was made between DMRT1 and AD spermatogenic failure. DMRT1 is not yet associated with a disease entity in OMIM (accessed 25th Sept 2026). |
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| Differences in sex development v4.24 | DMRT1 | Ida Ertmanska edited their review of gene: DMRT1: Changed publications to: 27711951, 28295047, 31745530, 33057194 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences in sex development v4.24 | DMRT1 |
Ida Ertmanska changed review comment from: PMID: 33057194 Kaplanis et al., 2021 Large exome seq study of Developmental Disorders cohort. 2 patients identified with gonadal dysgenesis and DMRT1 variants: NM_021951.3(DMRT1):c.673C>A (p.Leu225Ile) PMID: 31745530 Buonocore et al., 2019 Study of a patient cohort with complete gonadal dysgenesis (CGD) (n = 27) and partially virilized 46,XY DSD (pvDSD) (n = 25). A patient with CGD and female genital phenotype was heterozygous for variant in DMRT1: c.240G>C, p.Arg80Ser - not reported in gnomAD v4.1.1, inheritance listed as sporadic. Some support for pathogenicity from protein computer modelling. PMID: 27711951 Chauhan et al., 2017 Study of 10 patients with variable DSD. Method: direct sequencing of SRY, NR5A1, SOX9, DAX1, DHH, DMRT1 genes. One patient with complete gonadal dysgenesis was found to be heterozygous for DMRT1: c.416T>A, p.Leu139Gln. PMID: 28295047 Fan et al., 2017 P19 - diagnosed with CGD, 46, XY karyotype with normal SRY; harboured het DMRT1 variant c.251A > G, p.Tyr84Cys - maternally inherited, labelled VUS. As DMRT1 is only expressed in male-specific gonads, authors hypothesise the variant would not be expected to cause a phenotype in the mother. This variant has total of 7 hets reported in gnomAD v4. DMRT1 association with AD "46 XY differences of sex development" has been classified as Definitive in ClinGen (Reproduction and Infertility Expert Panel, 03/18/2026). A separate Definitive association was made between DMRT1 and AD spermatogenic failure. DMRT1 is not yet associated with a disease entity in OMIM (accessed 25th Sept 2026).; to: PMID: 33057194 Kaplanis et al., 2020 Large exome seq study of Developmental Disorders cohort. 2 patients identified with gonadal dysgenesis and DMRT1 variants: P_19455: het for NM_021951.3(DMRT1):c.673C>A (p.Leu225Ile) P_24289: het for NM_021951.3(DMRT1):c.962C>A (p.Ala321Glu) These variants are not reported in gnomAD v4.1.1. PMID: 31745530 Buonocore et al., 2019 Study of a patient cohort with complete gonadal dysgenesis (CGD) (n = 27) and partially virilized 46,XY DSD (pvDSD) (n = 25). A patient with CGD and female genital phenotype was heterozygous for variant in DMRT1: c.240G>C, p.Arg80Ser - not reported in gnomAD v4.1.1, inheritance listed as sporadic. Some support for pathogenicity from protein computer modelling. PMID: 27711951 Chauhan et al., 2017 Study of 10 patients with variable DSD. Method: direct sequencing of SRY, NR5A1, SOX9, DAX1, DHH, DMRT1 genes. One patient with complete gonadal dysgenesis was found to be heterozygous for DMRT1: c.416T>A, p.Leu139Gln. PMID: 28295047 Fan et al., 2017 P19 - diagnosed with CGD, 46, XY karyotype with normal SRY; harboured het DMRT1 variant c.251A > G, p.Tyr84Cys - maternally inherited, labelled VUS. As DMRT1 is only expressed in male-specific gonads, authors hypothesise the variant would not be expected to cause a phenotype in the mother. This variant has total of 7 hets reported in gnomAD v4. DMRT1 association with AD "46 XY differences of sex development" has been classified as Definitive in ClinGen (Reproduction and Infertility Expert Panel, 03/18/2026). A separate Definitive association was made between DMRT1 and AD spermatogenic failure. DMRT1 is not yet associated with a disease entity in OMIM (accessed 25th Sept 2026). |
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| Differences in sex development v4.24 | DMRT1 |
Ida Ertmanska changed review comment from: PMID: 31745530 Buonocore et al., 2019 Study of a patient cohort with complete gonadal dysgenesis (CGD) (n = 27) and partially virilized 46,XY DSD (pvDSD) (n = 25). A patient with CGD and female genital phenotype was heterozygous for variant in DMRT1: c.240G>C, p.Arg80Ser - not reported in gnomAD v4.1.1, inheritance listed as sporadic. Some support for pathogenicity from protein computer modelling. PMID: 27711951 Chauhan et al., 2017 Study of 10 patients with variable DSD. Method: direct sequencing of SRY, NR5A1, SOX9, DAX1, DHH, DMRT1 genes. One patient with complete gonadal dysgenesis was found to be heterozygous for DMRT1: c.416T>A, p.Leu139Gln. PMID: 28295047 Fan et al., 2017 P19 - diagnosed with CGD, 46, XY karyotype with normal SRY; harboured het DMRT1 variant c.251A > G, p.Tyr84Cys - maternally inherited, labelled VUS. As DMRT1 is only expressed in male-specific gonads, authors hypothesise the variant would not be expected to cause a phenotype in the mother. This variant has total of 7 hets reported in gnomAD v4. DMRT1 association with AD "46 XY differences of sex development" has been classified as Definitive in ClinGen (Reproduction and Infertility Expert Panel, 03/18/2026). A separate Definitive association was made between DMRT1 and AD spermatogenic failure. DMRT1 is not yet associated with a disease entity in OMIM (accessed 25th Sept 2026).; to: PMID: 33057194 Kaplanis et al., 2021 Large exome seq study of Developmental Disorders cohort. 2 patients identified with gonadal dysgenesis and DMRT1 variants: NM_021951.3(DMRT1):c.673C>A (p.Leu225Ile) PMID: 31745530 Buonocore et al., 2019 Study of a patient cohort with complete gonadal dysgenesis (CGD) (n = 27) and partially virilized 46,XY DSD (pvDSD) (n = 25). A patient with CGD and female genital phenotype was heterozygous for variant in DMRT1: c.240G>C, p.Arg80Ser - not reported in gnomAD v4.1.1, inheritance listed as sporadic. Some support for pathogenicity from protein computer modelling. PMID: 27711951 Chauhan et al., 2017 Study of 10 patients with variable DSD. Method: direct sequencing of SRY, NR5A1, SOX9, DAX1, DHH, DMRT1 genes. One patient with complete gonadal dysgenesis was found to be heterozygous for DMRT1: c.416T>A, p.Leu139Gln. PMID: 28295047 Fan et al., 2017 P19 - diagnosed with CGD, 46, XY karyotype with normal SRY; harboured het DMRT1 variant c.251A > G, p.Tyr84Cys - maternally inherited, labelled VUS. As DMRT1 is only expressed in male-specific gonads, authors hypothesise the variant would not be expected to cause a phenotype in the mother. This variant has total of 7 hets reported in gnomAD v4. DMRT1 association with AD "46 XY differences of sex development" has been classified as Definitive in ClinGen (Reproduction and Infertility Expert Panel, 03/18/2026). A separate Definitive association was made between DMRT1 and AD spermatogenic failure. DMRT1 is not yet associated with a disease entity in OMIM (accessed 25th Sept 2026). |
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| Differences in sex development v4.24 | DMRT1 | Ida Ertmanska edited their review of gene: DMRT1: Changed publications to: 27711951, 28295047, 31745530 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences in sex development v4.24 | DMRT1 |
Ida Ertmanska changed review comment from: DMRT1 association with AD "46 XY differences of sex development" has been classified as Definitive in ClinGen (Reproduction and Infertility Expert Panel, 03/18/2026). A separate Definitive association was made between DMRT1 and AD spermatogenic failure. DMRT1 is not yet associated with a disease entity in OMIM (accessed 25th Sept 2026).; to: PMID: 31745530 Buonocore et al., 2019 Study of a patient cohort with complete gonadal dysgenesis (CGD) (n = 27) and partially virilized 46,XY DSD (pvDSD) (n = 25). A patient with CGD and female genital phenotype was heterozygous for variant in DMRT1: c.240G>C, p.Arg80Ser - not reported in gnomAD v4.1.1, inheritance listed as sporadic. Some support for pathogenicity from protein computer modelling. PMID: 27711951 Chauhan et al., 2017 Study of 10 patients with variable DSD. Method: direct sequencing of SRY, NR5A1, SOX9, DAX1, DHH, DMRT1 genes. One patient with complete gonadal dysgenesis was found to be heterozygous for DMRT1: c.416T>A, p.Leu139Gln. PMID: 28295047 Fan et al., 2017 P19 - diagnosed with CGD, 46, XY karyotype with normal SRY; harboured het DMRT1 variant c.251A > G, p.Tyr84Cys - maternally inherited, labelled VUS. As DMRT1 is only expressed in male-specific gonads, authors hypothesise the variant would not be expected to cause a phenotype in the mother. This variant has total of 7 hets reported in gnomAD v4. DMRT1 association with AD "46 XY differences of sex development" has been classified as Definitive in ClinGen (Reproduction and Infertility Expert Panel, 03/18/2026). A separate Definitive association was made between DMRT1 and AD spermatogenic failure. DMRT1 is not yet associated with a disease entity in OMIM (accessed 25th Sept 2026). |
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| Differences in sex development v4.24 | DMRT1 | Ida Ertmanska reviewed gene: DMRT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 46 XY differences of sex development, MONDO:0020040; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences in sex development v4.24 | DMRT1 | Ida Ertmanska Mode of inheritance for gene: DMRT1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences in sex development v4.12 | DMRT1 | Sarah Leigh Publications for gene: DMRT1 were set to 11870074; 26139570; 24934491; 39936125 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences in sex development v4.11 | DMRT1 | Sarah Leigh edited their review of gene: DMRT1: Added comment: Variants affecting DMRT1 have been reported in cases with 46,XY disorders/differences of sex development. PMID: 24934491 reports NM_021951.3(DMRT1):c.671A>G (p.Asn224Ser) in 2 unrelated azoospermic men with complete bilateral Sertoli cell-only syndrome and decreased testicular volume by ultrasound. PMID: 26139570 reports NM_021951.2 c.-223_-219CGAAA>T in the promoter of DMRT1, which is a region shown to be involved in the repression of Dmrt1 expression in rat and mouse Sertoli cells (PMID:11870074). Therefore this promoter variants could result in disruption of DMRT1 regulation. PMID: 39936125 reports four different deletions, which all encompass the DMRT1 region (9p24.3p23 - 9p24) in four unrelated cases with gonadal dysgenesis and .; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences in sex development v4.11 | DMRT1 | Sarah Leigh Added comment: Comment on publications: PMID: 39936125 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences in sex development v4.11 | DMRT1 | Sarah Leigh Publications for gene: DMRT1 were set to 26139570; 24934491; 39936125 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences in sex development v4.10 | DMRT1 | Sarah Leigh Classified gene: DMRT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences in sex development v4.10 | DMRT1 | Sarah Leigh Gene: dmrt1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences in sex development v4.9 | DMRT1 | Sarah Leigh Phenotypes for gene: DMRT1 were changed from Gender Assignment Gene Panel (UKGTN) to 46,XY disorders/differences of sex development | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences in sex development v4.8 | DMRT1 | Sarah Leigh Publications for gene: DMRT1 were set to 26139570 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences in sex development v4.7 | DMRT1 | Sarah Leigh Mode of inheritance for gene: DMRT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences in sex development | DMRT1 | Sarah Leigh marked DMRT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences in sex development | DMRT1 | Sarah Leigh commented on DMRT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||