| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Mendeliome v2.0 | SCD | Gene migrated from ENSG00000099194 to ENSG00000099194 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3900 | ACTN2 |
Zornitza Stark edited their review of gene: ACTN2: Added comment: Multiple cardiac and skeletal phenotypes associated with variants in this gene. Association with cardiomyopathy is established as is the adult-onset dominant skeletal myopathy. There are only 2 unrelated individuals reported with congenital multiple‑structured‑core disease (MsCD), with de novo heterozygous variants. The recessive adult‑onset ACTN2‑related myopathy has been reported in 5 families (7 patients) but all with homozygous p.Arg506Gly. These two associations are AMBER.; Changed phenotypes: Myopathy, distal, 6, adult onset MIM#618655, Cardiomyopathy, hypertrophic, 23, with or without LVNC MIM#612158, Cardiomyopathy, dilated, 1AA, with or without LVNC MIM#612158, Myopathy, congenital with structured cores and Z-line abnormalities MIM#618654 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.7531 | SCD | Zornitza Stark Marked gene: SCD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.7531 | SCD | Zornitza Stark Gene: scd has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.7531 | SCD | Zornitza Stark Classified gene: SCD as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.7531 | SCD | Zornitza Stark Gene: scd has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.7464 | SCD |
Elena Savva gene: SCD was added gene: SCD was added to Mendeliome. Sources: Literature Mode of inheritance for gene: SCD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCD were set to PMID: 33690217; 10899171 Phenotypes for gene: SCD were set to Adrenoleukodystrophy Review for gene: SCD was set to RED Added comment: PMID: 33690217 zebrafish K/O mimics the motor phenotype of ALD zebrafish PMID: 10899171 null mouse was deficient in hepatic cholesterol esters and triglycerides despite the presence of normal activities of acyl-CoA, very low levels of triglycerides Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.5351 | SCD5 | Zornitza Stark Marked gene: SCD5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.5351 | SCD5 | Zornitza Stark Gene: scd5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.5351 | SCD5 |
Zornitza Stark gene: SCD5 was added gene: SCD5 was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: SCD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SCD5 were set to 31972369 Phenotypes for gene: SCD5 were set to Deafness, autosomal dominant 79, MIM#619086 Review for gene: SCD5 was set to RED Added comment: Single 5-generation family reported with a missense variant segregating in 19 affected individuals. Variant is found at a low frequency in ExAC. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||