| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Adult onset neurodegenerative disorder v2.136 | UBQLN2 | Ivone Leong Phenotypes for gene: UBQLN2 were changed from Amyotrophic Lateral Sclerosis, Dominant; Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, 300857 to Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, OMIM:300857 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.101 | UBQLN2 | Louise Daugherty commented on gene: UBQLN2: 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 | UBQLN2 | Louise Daugherty Source Wessex and West Midlands GLH was added to UBQLN2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.99 | UBQLN2 | Tracy Lester reviewed gene: UBQLN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Amyotrophic Lateral Sclerosis, Dominant, Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, 300857; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.81 | UBQLN2 | Louise Daugherty Publications for gene UBQLN2 were changed from to 23541532; 21857683 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.74 | UBQLN2 | Louise Daugherty commented on gene: UBQLN2: 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 | UBQLN2 | Nick Beauchamp reviewed gene: UBQLN2: Rating: GREEN; Mode of pathogenicity: ; Publications: 21857683, 23541532; Phenotypes: Amyotrophic Lateral Sclerosis, Dominant, Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, 300857; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.67 | UBQLN2 | Louise Daugherty Source Yorkshire and North East GLH was added to UBQLN2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.11 | UBQLN2 | Louise Daugherty reviewed gene: UBQLN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.10 | UBQLN2 | James Polke reviewed gene: UBQLN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.9 | UBQLN2 | Louise Daugherty Source NHS GMS was added to UBQLN2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.8 | UBQLN2 | Louise Daugherty Source London North GLH was added to UBQLN2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v0.2 | UBQLN2 | Rebecca Foulger Added phenotypes Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, 300857 for gene: UBQLN2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v0.2 | UBQLN2 |
Rebecca Foulger gene: UBQLN2 was added gene: UBQLN2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: UBQLN2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: UBQLN2 were set to Amyotrophic Lateral Sclerosis, Dominant; Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, 300857 |
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