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| Neurodegeneration with brain iron accumulation v2.0 | CP | Gene migrated from ENSG00000047457 to ENSG00000047457 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.35 | CP | Sangavi Sivagnanasundram reviewed gene: CP: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301666, 32235485, 11756598, 10997552; Phenotypes: aceruloplasminemia MONDO:0011426; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.15 | SCP2 | Shekeeb Mohammad edited their review of gene: SCP2: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.15 | SCP2 | Shekeeb Mohammad reviewed gene: SCP2: Rating: RED; Mode of pathogenicity: None; Publications: 35996156; Phenotypes: progressive bulbar dysfunction, dementia, azoospermia, cardiac dysrhythmia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.14 | SCP2 | Zornitza Stark Phenotypes for gene: SCP2 were changed from Neurodegeneration with brain iron accumulation; ataxia to Leukoencephalopathy with dystonia and motor neuropathy, MIM#613724; Neurodegeneration with brain iron accumulation; ataxia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.13 | SCP2 | Zornitza Stark Publications for gene: SCP2 were set to 26497993 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.12 | SCP2 | Zornitza Stark Classified gene: SCP2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.12 | SCP2 | Zornitza Stark Gene: scp2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.11 | SCP2 | Zornitza Stark reviewed gene: SCP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 26497993; Phenotypes: Leukoencephalopathy with dystonia and motor neuropathy, MIM#613724; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.5 | SCP2 | Samantha Ayres reviewed gene: SCP2: Rating: RED; Mode of pathogenicity: None; Publications: 16685654; Phenotypes: Leukoencephalopathy with dystonia and motor neuropathy, MIM#613724; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.3 | SCP2 | Bryony Thompson Marked gene: SCP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.3 | SCP2 | Bryony Thompson Gene: scp2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.3 | SCP2 |
Bryony Thompson gene: SCP2 was added gene: SCP2 was added to Neuroferritinopathies. Sources: Literature Mode of inheritance for gene: SCP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCP2 were set to 26497993 Phenotypes for gene: SCP2 were set to Neurodegeneration with brain iron accumulation; ataxia Review for gene: SCP2 was set to RED Added comment: A single case with biallelic variants has been reported with neurodegeneration with brain iron accumulation and ataxia. Sources: Literature |
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| Neurodegeneration with brain iron accumulation v0.0 | CP |
Bryony Thompson gene: CP was added gene: CP was added to Neuroferritinopathies. Sources: Expert Review Green,GeneReviews Mode of inheritance for gene: CP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CP were set to Aceruloplasminemia |
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