Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v3.22 | SOX11 | Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: SOX11. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v3.22 | SOX11 | Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v3.22 | SOX11 | Achchuthan Shanmugasundram commented on gene: SOX11: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v3.21 | SOX11 |
Achchuthan Shanmugasundram Source NHS GMS was added to SOX11. Source Expert Review Green was added to SOX11. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v3.4 | SOX11 | Achchuthan Shanmugasundram Classified gene: SOX11 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v3.4 | SOX11 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (>10 unrelated cases) to promote this gene to green rating at the next major update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v3.4 | SOX11 | Achchuthan Shanmugasundram Gene: sox11 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v3.3 | SOX11 | Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: SOX11. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v3.3 | SOX11 |
Achchuthan Shanmugasundram gene: SOX11 was added gene: SOX11 was added to Hypogonadotropic hypogonadism (GMS). Sources: Literature Mode of inheritance for gene: SOX11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SOX11 were set to 35341651 Phenotypes for gene: SOX11 were set to Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, OMIM:615866 Review for gene: SOX11 was set to GREEN Added comment: PMID:35341651 reported 38 unrelated patients with SOX11 variants and idiopathic hypogonadotropic hypogonadism was confirmed as a feature of the intellectual developmental disorder phenotype in eight of these patients. In addition, 3 of 15 cases that were previously reported and reviewed in this publication also had hypogonadotropic hypogonadism. This gene has been associated with neurodevelopmental disorder phenotypes in both OMIM (MIM #615866) and Gene2Phenotype (with 'definitive' rating in the DD panel) and hypogonadotropic hypogonadism was reported as one of the clinical manifestations in OMIM. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||