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| Mendeliome v2.0 | MAD2L1BP | Gene migrated from ENSG00000124688 to ENSG00000124688 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.5023 | MAD2L1BP |
Sangavi Sivagnanasundram gene: MAD2L1BP was added gene: MAD2L1BP was added to Mendeliome. Sources: Literature Mode of inheritance for gene: MAD2L1BP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAD2L1BP were set to 37796616; 37334967 Phenotypes for gene: MAD2L1BP were set to Female infertility MONDO:0021124; MAD2L1BP-related Mosaic variegated aneuploidy syndrome with microcephaly, epileptic encephalopathy, developmental delay and juvenile granulosa‑cell tumours MONDO:0002254 Review for gene: MAD2L1BP was set to AMBER Added comment: PMID: 37334967 - this publication doesn't report variants on the MANE select transcript 3 unrelated families reported with biallelic variants in MAD2L1BP presenting with infertility One family reported consanguinity. The population frequencies reported in the publication are related to gnomAD v2.1. When looking at gnomAD v4.1, the variants are rare enough for AR association. PMID: 37796616 Reports two consanguineous families presenting with a complex phenotype including microcephaly, brain malformations (with cysts and polymicrogyria), seizures, developmental delay. No pathogenic variants reported in ClinVar No Morbid entry in OMIM This gene to remain as AMBER for both GDAs given the reports are in consanguineous families and supportive functional assays are required. Sources: Literature |
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