| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Early-onset Dementia v2.5 | ABCD1 | Bryony Thompson Marked gene: ABCD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Dementia v2.5 | ABCD1 | Bryony Thompson Gene: abcd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Dementia v2.5 | ABCD1 | Bryony Thompson Classified gene: ABCD1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Dementia v2.5 | ABCD1 | Bryony Thompson Gene: abcd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Dementia v2.4 | ABCD1 |
Bryony Thompson gene: ABCD1 was added gene: ABCD1 was added to Early-onset Dementia. Sources: Literature 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 41094371; 40256457; 37247117; 36407291; 30546814 Phenotypes for gene: ABCD1 were set to X-linked cerebral adrenoleukodystrophy, MONDO:0010247 Review for gene: ABCD1 was set to GREEN Added comment: PMID 37247117, PMID 40256457, PMID 30546814, PMID 41094371 and PMID 36407291 report a total of 21 individuals from 5 families with loss‑of‑function ABCD1 variants presenting with adult‑onset cerebral X‑linked adrenoleukodystrophy characterised by progressive cognitive decline, frontal‑lobe dysfunction and, in some cases, spastic paraparesis and adrenal insufficiency. This monogenic X‑linked disorder is diagnosable by VLCFA elevation and ABCD1 sequencing, fitting the Early‑onset Dementia panel’s focus on early cognitive impairment and neurodegenerative disease. Sources: Literature |
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