Activity
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13 actions
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| Likely inborn error of metabolism v1.206 | PANK2 | Sarah Leigh Publications for gene: PANK2 were set to 27604308; 11479594; 12510040; 12058097; 14638969; 16240131 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.206 | PANK2 | Sarah Leigh Publications for gene: PANK2 were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.205 | PANK2 | Sarah Leigh Classified gene: PANK2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.205 | PANK2 |
Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 13 variants reported for Neurodegeneration with brain iron accumulation 234200 and 3 variants in 2 unrelated cases of HARP syndrome 607236. |
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| Likely inborn error of metabolism v1.205 | PANK2 | Sarah Leigh Gene: pank2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.205 | PANK2 | Sarah Leigh Classified gene: PANK2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.205 | PANK2 |
Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 13 variants reported for Neurodegeneration with brain iron accumulation 234200 and 3 variants in 2 unrelated cases of HARP syndrome 607236. |
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| Likely inborn error of metabolism v1.205 | PANK2 | Sarah Leigh Gene: pank2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.204 | PANK2 | Sarah Leigh Added comment: Comment on phenotypes: (Disorder of iron metabolism);Pantothenate kinases deficiency (Other disorders of vitamins and cofactors) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.204 | PANK2 | Sarah Leigh Phenotypes for gene: PANK2 were changed from Neurodegeneration with brain iron accumulation 1, 234200HARP syndrome, 607236; Early onset dystonia; Posterior segment abnormalities; Parkinson Disease and Complex Parkinsonism; Neurodegeneration with brain iron accumulation (NBIA) (Disorder of iron metabolism); Pantothenate kinases deficiency (Other disorders of vitamins and cofactors) to HARP syndrome 607236; Neurodegeneration with brain iron accumulation 234200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.47 | PANK2 |
Ivone Leong Source NHS GMS was added to PANK2. Source London North GLH was added to PANK2. |
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| Likely inborn error of metabolism v0.4 | PANK2 | Ellen McDonagh Added phenotypes Neurodegeneration with brain iron accumulation 1, 234200HARP syndrome, 607236 for gene: PANK2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v0.4 | PANK2 |
Ellen McDonagh gene: PANK2 was added gene: PANK2 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PANK2 were set to 27604308 Phenotypes for gene: PANK2 were set to Early onset dystonia; Neurodegeneration with brain iron accumulation (NBIA) (Disorder of iron metabolism); Pantothenate kinases deficiency (Other disorders of vitamins and cofactors); Posterior segment abnormalities; Parkinson Disease and Complex Parkinsonism |
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