| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Spontaneous coronary artery dissection v1.0 | LMX1B | Gene migrated from ENSG00000136944 to ENSG00000136944 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.51 | LMX1B | Zornitza Stark Classified gene: LMX1B as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.51 | LMX1B | Zornitza Stark Gene: lmx1b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.50 | LMX1B | Zornitza Stark reviewed gene: LMX1B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nail-patella syndrome MIM#161200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.50 | LMX1B | Ain Roesley Publications for gene: LMX1B were set to 37979122; 29650765 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.49 | LMX1B | Ain Roesley Classified gene: LMX1B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.49 | LMX1B | Ain Roesley Gene: lmx1b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.48 | LMX1B | Ain Roesley edited their review of gene: LMX1B: Changed rating: AMBER; Changed publications: 29650765; Changed phenotypes: Nail-patella syndrome MIM#161200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.48 | LMX1B |
Ain Roesley changed review comment from: PMID: 37979122; listed as "likely monogenic disease effect" However, only a single patient found in literature PMID: 29650765; 1x individual with SCAD and an NMD fs this gene is constraint for LoF in gnomad v4 with only 2 hets for an NMD variant. amber so as to not miss a diagnosis Sources: Literature; to: PMID: 29650765; 1x individual with SCAD and an NMD fs this gene is constraint for LoF in gnomad v4 with only 2 hets for an NMD variant. amber so as to not miss a diagnosis Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.48 | LMX1B |
Ain Roesley changed review comment from: PMID: 37979122; listed as "likely monogenic disease effect" However, only a single patient found in literature PMID: 29650765; 1x individual with SCAD and an NMD fs Sources: Literature; to: PMID: 37979122; listed as "likely monogenic disease effect" However, only a single patient found in literature PMID: 29650765; 1x individual with SCAD and an NMD fs this gene is constraint for LoF in gnomad v4 with only 2 hets for an NMD variant. amber so as to not miss a diagnosis Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.25 | LMX1B | Ain Roesley Marked gene: LMX1B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.25 | LMX1B | Ain Roesley Gene: lmx1b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.25 | LMX1B |
Ain Roesley gene: LMX1B was added gene: LMX1B was added to Spontaneous coronary artery dissection. Sources: Literature Mode of inheritance for gene: LMX1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LMX1B were set to 37979122; 29650765 Phenotypes for gene: LMX1B were set to Nail-patella syndrome MIM#161200 Review for gene: LMX1B was set to RED gene: LMX1B was marked as current diagnostic Added comment: PMID: 37979122; listed as "likely monogenic disease effect" However, only a single patient found in literature PMID: 29650765; 1x individual with SCAD and an NMD fs Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||