Male Fertility Gene Atlas

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ClinVar Case Data

WYRWOLL, Margot J., et al. Biallelic mutations in M1AP are a frequent cause of meiotic arrest leading to male infertility. bioRxiv, 2019, S. 803346.

Publication: https://doi.org/10.1101/803346

Description

Disclaimer

The publication [PREPRINT] Biallelic mutations in M1AP are a frequent cause of meiotic arrest leading to male infertility by Margot J. Wyrwoll,<sup>1,#</sup> Şehime G. Temel,<sup>2,#</sup> Liina Nagirnaja,<sup>3</sup> Manon S. Oud,<sup>4</sup> Alexandra M. Lopes,<sup>5,6</sup> Godfried W. van der Heijden,<sup>4,7</sup> Nadja Rotte,<sup>8</sup> Joachim Wistuba,<sup>8</sup> Marius Wöste,<sup>9</sup> Susanne Ledig,<sup>1</sup> Henrike Krenz,<sup>9</sup> Roos M. Smits,<sup>7</sup> Filipa Carvalho,<sup>10</sup> João Gonçalves,<sup>11</sup> Daniela Fietz,<sup>12</sup> Burcu Türkgenç,<sup>13</sup> Mahmut C. Ergören,<sup>14</sup> Murat Çetinkaya,<sup>15</sup> Murad Başar,<sup>16</sup> Semra Kahraman,<sup>17</sup> Adrian Pilatz,<sup>18</sup> Albrecht Röpke,<sup>1</sup> Martin Dugas,<sup>9</sup> Sabine Kliesch,<sup>19</sup> Nina Neuhaus,<sup>8</sup> GEMINI Consortium, Kenneth I. Aston,<sup>20</sup> Donald F. Conrad,<sup>3</sup> Joris A. Veltman,<sup>4,21</sup> Corinna Friedrich,<sup>1,#</sup> Frank Tüttelmann<sup>1,#,&lowast;</sup> is not published under an open access license. Therefore, only content curated by the MFGA team can be shown. For abstract, images and tables please follow the link to the original publication.

Curation by the MFGA team
This data table (ClinVar Case Data) has been extracted from publication or supplemental material. However, the format of the table has been adjusted to the MFGA requirements, allowing for filter and sort operations on the data in the web browser. None

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Table

LinkingId IndividualId CollectionMethod AlleleOrigin CompoundHetVariant_1 AlleleOrigin_2 CompoundHetVariant_2 AffectedStatus StructuralVariantMethod/analysisType ClinicalFeatures CommentOnClinicalFeatures DatePhenotypeWasEvaluated Tissue Sex Age PopulationGroup/ethnicity GeographicOrigin Indication FamilyHistory Proband FamilyId SegregationObserved SecondaryFinding Mosaicism Zygosity Co-occurrences;SameGene Co-occurrences;OtherGenes EvidenceCitations CitationsOrUrlsThatCannotBeRepresentedInEvidenceCitationsColumn CommentOnEvidence TestNameOrType PlatformType PlatformName Method MethodPurpose MethodCitations SoftwareNameAndVersion SoftwarePurpose TestingLaboratory DateVariantWasReportedToSubmitter TestingLaboratoryInterpretation
g.74808894dup M330 research unknown yes HP:0011961 08.10.2019 yes no no no homozygote whole exome sequencing
g.74808894dup M864 research unknown yes HP:0011961 08.10.2019 yes no no no homozygote whole exome sequencing
g.74808894dup M1792 research unknown yes HP:0011961 08.10.2019 yes no no no homozygote whole exome sequencing
g.74808894dup RU01691 research inherited yes HP:0011961 08.10.2019 yes no no no homozygote whole exome sequencing
g.74808894dup Y126 research unknown yes HP:0011961 08.10.2019 yes no no no compound heterozygote whole exome sequencing
g.74802690C>T Y126 research unknown yes HP:0011961 08.10.2019 yes no no no compound heterozygote whole exome sequencing
g.74867255A>G P86 research unknown yes HP:0011961 08.10.2019 yes no no no compound heterozygote whole exome sequencing
g.74787411A>G P86 research unknown yes HP:0011961 08.10.2019 yes no no no compound heterozygote whole exome sequencing
g.74789459G>A T1024 research inherited yes HP:0011961 08.10.2019 yes yes no no homozygote whole exome sequencing
whole exome sequencing