Likely inborn error of metabolism - targeted testing not possible
Gene: PANK2Comment 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.Created: 19 Aug 2019, 1:58 p.m. | Last Modified: 19 Aug 2019, 1:58 p.m.
Panel Version: 1.205
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.Created: 19 Aug 2019, 1:57 p.m. | Last Modified: 19 Aug 2019, 1:57 p.m.
Panel Version: 1.205
Comment on phenotypes: (Disorder of iron metabolism);Pantothenate kinases deficiency (Other disorders of vitamins and cofactors)Created: 19 Aug 2019, 1:47 p.m. | Last Modified: 19 Aug 2019, 1:47 p.m.
Panel Version: 1.204
Publications for gene: PANK2 were set to 27604308; 11479594; 12510040; 12058097; 14638969; 16240131
Publications for gene: PANK2 were set to 27604308
Gene: pank2 has been classified as Green List (High Evidence).
Gene: pank2 has been classified as Green List (High Evidence).
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
Source NHS GMS was added to PANK2. Source London North GLH was added to PANK2.
Sarah Leigh: Associated with relevant pheno
Added phenotypes Neurodegeneration with brain iron accumulation 1, 234200HARP syndrome, 607236 for gene: PANK2
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