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| Mendeliome v1.2764 | MAJIN |
Zornitza Stark gene: MAJIN was added gene: MAJIN was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: MAJIN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAJIN were set to 39545410; 33211200 Phenotypes for gene: MAJIN were set to Recurrent hydatidiform mole, non-obstructive azoospermia Review for gene: MAJIN was set to AMBER Added comment: New papers (biallelic variant for HM/male infertility): i) PMID: 39545410- Novel homozygous splice donor site variant c.349+1G>T in patient 1824 (Italian) with 2 HMs followed by secondary infertility and substantially reduced bilateral ovarian volumes. MAJIN codes for a junction protein that forms a complex with TERB1 and TERB2, which together bind to telomeres and anchor them to the inner nuclear membrane components KASH5 and SUN1. This attachment of chromosomes to the nuclear envelope is essential for homologous chromosome movement and synapsis. In mice, both male and female null mutants Majin are infertile (PMID: 26548954). In humans, biallelic mutations in MAJIN have been reported in infertile males. ii) PMID: 33211200- A homozygous p.Arg53His in NOA-affected male (Individual 4- M1646) with high CADD scores and low gnomad freq. Mice disrupted for either Majin or Terb2 display impaired synapsis, zygotene arrest, a lack of postmeiotic cells and infertility (Shibuya et al. 2015; Zhang et al. 2017). Sources: Expert list |
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| Mendeliome v0.10110 | TERB2 | Zornitza Stark Marked gene: TERB2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10110 | TERB2 | Zornitza Stark Gene: terb2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10110 | TERB2 | Zornitza Stark Classified gene: TERB2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10110 | TERB2 | Zornitza Stark Gene: terb2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10109 | TERB2 |
Zornitza Stark gene: TERB2 was added gene: TERB2 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: TERB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TERB2 were set to 33211200 Phenotypes for gene: TERB2 were set to Spermatogenic failure 59, MIM# 619645 Review for gene: TERB2 was set to AMBER Added comment: One family with three affected siblings; mouse model. Sources: Literature |
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