Activity
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8 actions
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| Inherited bleeding disorders v1.116 | TPM4 | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited bleeding disorders v1.116 | TPM4 | Louise Daugherty Classified gene: TPM4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited bleeding disorders v1.116 | TPM4 | Louise Daugherty Added comment: Comment on list classification: Changed from Green to Amber. This gene was rated as Green due to NIHRBR-RD BRIDGE project initially reporting two independent pedigrees plus a mouse model. However, it was subsequently found (pers. comm., Karyn Megy) that one of the pedigrees actually carried an ACTN1 variant, so TPM4 no longer has enough evidence to support gene-disease association to rate as Green, so needs to be demoted to Amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited bleeding disorders v1.116 | TPM4 | Louise Daugherty Gene: tpm4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited bleeding disorders v1.115 | TPM4 | Louise Daugherty edited their review of gene: TPM4: Added comment: This gene was rated as Green due to NIHRBR-RD BRIDGE project initially reporting two independent pedigrees plus a mouse model. However, it was subsequently found (pers. comm., Karyn Megy) that one of the pedigrees actually carried an ACTN1 variant, so TPM4 no longer has enough evidence to support gene-disease association to rate as Green, so needs to be demoted to Amber.; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited bleeding disorders | TPM4 | Louise Daugherty classified TPM4 as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited bleeding disorders | TPM4 | Louise Daugherty commented on TPM4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited bleeding disorders | TPM4 | BRIDGE consortium reviewed TPM4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||