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| 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 |
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| 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 |
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