| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v1.3696 | HELB | Zornitza Stark Marked gene: HELB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3696 | HELB | Zornitza Stark Gene: helb has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3696 | HELB | Rylee Peters Classified gene: HELB as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3696 | HELB | Rylee Peters Gene: helb has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3695 | HELB |
Rylee Peters gene: HELB was added gene: HELB was added to Mendeliome. Sources: Literature Mode of inheritance for gene: HELB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HELB were set to 41212051 Phenotypes for gene: HELB were set to Premature ovarian failure, MONDO:0019852, HELB-related Review for gene: HELB was set to AMBER Added comment: PMID: 41212051 reports three individuals from a single family with a heterozygous missense HELB c.349G>T (p.Asp117Tyr) presenting with premature ovarian insufficiency and early menopause. The variant co-segregates with disease across three generations and is absent from population databases. A mouse knock-in model recapitulates the POI phenotype; RNA-seq and transcriptomic analysis showed dysregulation of genes associated with ovarian function in Helb-mutated mice. Sources: Literature |
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