Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v7.2 | ABCD1 | Arina Puzriakova Phenotypes for gene: ABCD1 were changed from Adrenoleukodystrophy, OMIM:300100; Adrenomyeloneuropathy, adult, OMIM:300100; adrenoleukodystrophy, MONDO:0018544 to Adrenoleukodystrophy, OMIM:300100; Adrenoleukodystrophy, adult, OMIM:300100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.148 | ABCD1 |
Sarah Leigh Tag Q3_24_promote_green was removed from gene: ABCD1. Tag Q3_24_NHS_review was removed from gene: ABCD1. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.148 | ABCD1 | Sarah Leigh edited their review of gene: ABCD1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.147 | ABCD1 |
Sarah Leigh Source NHS GMS was added to ABCD1. Source Expert Review Green was added to ABCD1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.27 | ABCD1 | Sarah Leigh Phenotypes for gene: ABCD1 were changed from adreno leukodystrophy; adrenomyeloneuropathy to Adrenoleukodystrophy, OMIM:300100; Adrenomyeloneuropathy, adult, OMIM:300100; adrenoleukodystrophy, MONDO:0018544 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.38 | ABCD1 |
Sarah Leigh Tag Q3_24_promote_green tag was added to gene: ABCD1. Tag Q3_24_NHS_review tag was added to gene: ABCD1. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.38 | ABCD1 | Sarah Leigh reviewed gene: ABCD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24480483, 7904210, 7811247, 8535452, 8566952; Phenotypes: Adrenoleukodystrophy, OMIM:300100, Adrenomyeloneuropathy, adult, OMIM:300100, adrenoleukodystrophy, MONDO:0018544; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.38 | ABCD1 | Sarah Leigh Classified gene: ABCD1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.38 | ABCD1 | Sarah Leigh Gene: abcd1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.16 | ABCD1 |
Alexander Rossor gene: ABCD1 was added gene: ABCD1 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: ABCD1 were set to https://doi.org/10.1093/brain/awt361 Phenotypes for gene: ABCD1 were set to adreno leukodystrophy; adrenomyeloneuropathy Penetrance for gene: ABCD1 were set to Complete Review for gene: ABCD1 was set to GREEN Added comment: Peripheral neuropathy in 50% female carriers Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||