| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Adult onset neurodegenerative disorder v2.110 | PANK2 | Ivone Leong Phenotypes for gene: PANK2 were changed from Dystonia; Neurodegeneration with brain iron accumulation 1; 234200; Early Onset Complex Disease; pantothenate kinase-associated neurodegeneration to Dystonia; Neurodegeneration with brain iron accumulation 1, OMIM:234200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.101 | PANK2 | Louise Daugherty commented on gene: PANK2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.100 | PANK2 | Louise Daugherty Source Wessex and West Midlands GLH was added to PANK2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.99 | PANK2 | Tracy Lester reviewed gene: PANK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, Neurodegeneration with brain iron accumulation 1, 234200, Early Onset Complex Disease, pantothenate kinase-associated neurodegeneration; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.81 | PANK2 | Louise Daugherty Publications for gene PANK2 were changed from to 15911822; 11479594 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.74 | PANK2 | Louise Daugherty commented on gene: PANK2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.72 | PANK2 | Nick Beauchamp reviewed gene: PANK2: Rating: GREEN; Mode of pathogenicity: ; Publications: 11479594, 15911822; Phenotypes: Dystonia, Neurodegeneration with brain iron accumulation 1, 234200, Early Onset Complex Disease, pantothenate kinase-associated neurodegeneration; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.67 | PANK2 | Louise Daugherty Source Yorkshire and North East GLH was added to PANK2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.11 | PANK2 | Louise Daugherty reviewed gene: PANK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.10 | PANK2 | James Polke reviewed gene: PANK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.9 | PANK2 | Louise Daugherty Source NHS GMS was added to PANK2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.8 | PANK2 | Louise Daugherty Source London North GLH was added to PANK2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v0.2 | PANK2 | Rebecca Foulger Added phenotypes pantothenate kinase-associated neurodegeneration; Dystonia; Neurodegeneration with brain iron accumulation 1; 234200; Early Onset Complex Disease for gene: PANK2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v0.2 | PANK2 |
Rebecca Foulger gene: PANK2 was added gene: PANK2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PANK2 were set to Dystonia; pantothenate kinase-associated neurodegeneration |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||