| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Mendeliome v2.332 | PLEKHA6 | Sangavi Sivagnanasundram Classified gene: PLEKHA6 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.332 | PLEKHA6 | Sangavi Sivagnanasundram Gene: plekha6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.315 | PLEKHA6 |
Sangavi Sivagnanasundram gene: PLEKHA6 was added gene: PLEKHA6 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: PLEKHA6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PLEKHA6 were set to 10.64898/2026.04.10.26349358 Phenotypes for gene: PLEKHA6 were set to idiopathic hypogonadotropic hypogonadism MONDO:0018555 Review for gene: PLEKHA6 was set to AMBER Added comment: Preprint publication Topaloglu et al 2026 The publication reports > 5 unrelated families with missense PLEKHA6 variants presenting with idiopathic hypogonadotropic hypogonadism (IHH). Some of the reported missense variants are present in gnomAD with a high AF for AD GDA however there are rare variants reported as well. The authors report one homozygous proband which appears to segregate in the family as homozygous as well however there is no pedigree available or mention of consanguinity. There are no other reports of AR association for this gene. There are no pathogenic variants reported in ClinVar and the gene is not constrained for missense either. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||