Table 1: Genetic and clinical data of infertile patients carrying M1AP variants.

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

Abbreviations:
D: damaging, deleterious or disease causing,
T: tolerated,
P: polymorphism,
MAF: minor allele frequency,
FSH: follicle stimulating hormone (IU/L),
LH: luteinizing hormone (IU/L),
T: testosterone (nmol/L),
TV: testicular volume right/left (mL),
ES: elongating spermatids,
RS: round spermatids,
SC: spermatocytes,
SG: spermatogonia,
SCO: Sertoli-cell only,
TS: tubular shadows,
ND: not determined,
NA: not available.
Reference values: FSH 1-7 IU/L, LH 2-10 IU/L, T >12 nmol/L, TV >15 mL per testis.

Disclaimer

The publication [PREPRINT] Biallelic mutations in M1AP are a frequent cause of meiotic arrest leading to male infertility by Margot J. Wyrwoll,^1,# Şehime G. Temel,^2,# Liina Nagirnaja,³ Manon S. Oud,⁴ Alexandra M. Lopes,^5,6 Godfried W. van der Heijden,^4,7 Nadja Rotte,⁸ Joachim Wistuba,⁸ Marius Wöste,⁹ Susanne Ledig,¹ Henrike Krenz,⁹ Roos M. Smits,⁷ Filipa Carvalho,¹⁰ João Gonçalves,¹¹ Daniela Fietz,¹² Burcu Türkgenç,¹³ Mahmut C. Ergören,¹⁴ Murat Çetinkaya,¹⁵ Murad Başar,¹⁶ Semra Kahraman,¹⁷ Adrian Pilatz,¹⁸ Albrecht Röpke,¹ Martin Dugas,⁹ Sabine Kliesch,¹⁹ Nina Neuhaus,⁸ GEMINI Consortium, Kenneth I. Aston,²⁰ Donald F. Conrad,³ Joris A. Veltman,^4,21 Corinna Friedrich,^1,# Frank Tüttelmann^1,#,∗ 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 (Table 1: Genetic and clinical data of infertile patients carrying M1AP variants.) 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. Column 'Fertilityparameters' has been split into columns 'Fsh', 'Lh', 'T', 'Tv' and 'Phenotype'. Column 'Testicular phenotype, TESE outcome' has been split into columns 'Testicular Phenotype', 'Tubules With Es, Rs, Sc, Sg, Sco, Ts' and 'Tese Outcome'. NAs replaced by empty spaces

Pie chart of selected column

Table