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Differences in sex development v2.58 | ISCA-46302-Gain | Arina Puzriakova Tag for-review was removed from Region: ISCA-46302-Gain. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Differences in sex development v2.58 | ISCA-46302-Gain | Arina Puzriakova Classified Region: ISCA-46302-Gain as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Differences in sex development v2.58 | ISCA-46302-Gain | Arina Puzriakova Region: isca-46302-gain has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Differences in sex development v2.57 | ISCA-46302-Gain | Arina Puzriakova commented on Region: ISCA-46302-Gain | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Differences in sex development v2.16 | ISCA-46302-Gain | Catherine Snow Tag for-review tag was added to Region: ISCA-46302-Gain. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Differences in sex development v2.16 | ISCA-46302-Gain | Catherine Snow Classified Region: ISCA-46302-Gain as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Differences in sex development v2.16 | ISCA-46302-Gain | Catherine Snow Added comment: Comment on list classification: Addition of region inline with ClinGen regions classifications. Reviewed by GEL clinical team for panel phenotype, NR0B1 green on panel so CNV should be added too and phenotype of gonadal dysgenesis relevant to this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Differences in sex development v2.16 | ISCA-46302-Gain | Catherine Snow Region: isca-46302-gain has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Differences in sex development v2.15 | ISCA-46302-Gain |
Catherine Snow Region: ISCA-46302-Gain was added Region: ISCA-46302-Gain was added to Disorders of sex development. Sources: ClinGen Mode of inheritance for Region: ISCA-46302-Gain was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for Region: ISCA-46302-Gain were set to 22518125; 17504899; 20685758 Phenotypes for Region: ISCA-46302-Gain were set to gonadal dysgenesis Review for Region: ISCA-46302-Gain was set to AMBER Added comment: Sources: ClinGen |