| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Neurodegeneration with brain iron accumulation v0.34 | DDHD1 | Bryony Thompson Marked gene: DDHD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.34 | DDHD1 | Bryony Thompson Gene: ddhd1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.34 | DDHD1 | Bryony Thompson Classified gene: DDHD1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.34 | DDHD1 | Bryony Thompson Added comment: Comment on list classification: Only single case reported with iron accumulation | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.34 | DDHD1 | Bryony Thompson Gene: ddhd1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.31 | DDHD1 |
Shekeeb Mohammad gene: DDHD1 was added gene: DDHD1 was added to Neuroferritinopathies. Sources: Literature Mode of inheritance for gene: DDHD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DDHD1 were set to 28818478 Phenotypes for gene: DDHD1 were set to spastic paraplegia; sensory neuropathy Review for gene: DDHD1 was set to GREEN gene: DDHD1 was marked as current diagnostic Added comment: Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||