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| Mendeliome v2.188 | ITPRID2 |
Sangavi Sivagnanasundram gene: ITPRID2 was added gene: ITPRID2 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: ITPRID2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ITPRID2 were set to 41802982; 35836265 Phenotypes for gene: ITPRID2 were set to ITPRID2-related severe asthenoteratozoospermia, globozoospermia and acrosome defects MONDO:0005372 Review for gene: ITPRID2 was set to AMBER Added comment: PMID 41802982 and PMID 35836265 report a total of 4 individuals with biallelic ITPRID2 variants causing autosomal recessive male infertility characterised by severe asthenoteratozoospermia, globozoospermia and acrosome defects. Two of the reported individuals carried the same compound heterozygous variant which are rare in gnomAD v4.1 however, these individuals presented with different phenotypic features (one was phenotypically severe and the other normal) There is no Morbid gene-disease association in OMIM for this gene yet. There are no pathogenic variants reported in ClinVar either. The gene is also known as SSFA2 in the literature. Given only two of the reported cases are fully supportive of this gene-disease association, the gene is to remain as AMBER until further evidence is published. Sources: Literature |
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