This Panel is marked as Internal
Gene therapy clinical trials
Gene: ABCD1
ABCD1 (ATP binding cassette subfamily D member 1)
EnsemblGeneIds (GRCh38): ENSG00000101986
EnsemblGeneIds (GRCh37): ENSG00000101986
OMIM: 300371, Gene2Phenotype
ABCD1 is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000101986
EnsemblGeneIds (GRCh37): ENSG00000101986
OMIM: 300371, Gene2Phenotype
ABCD1 is in 16 panels
1 review
Ellen McDonagh (Genomics England Curator)
Genetic: Lenti-D Drug Product - trial https://clinicaltrials.gov/ct2/show/NCT01896102.Created: 2 May 2018, 3:12 p.m.
Phenotypes
Cerebral Adrenoleukodystrophy (CALD)
Details
- Sources
-
- Expert Review Green
- ClinicalTrials.gov
- Phenotypes
-
- Cerebral Adrenoleukodystrophy (CALD)
- OMIM
- 300371
- Clinvar variants
- Variants in ABCD1
- Penetrance
- None
- Panels with this gene
-
- White matter disorders and cerebral calcification - narrow panel
- Peroxisomal disorders
- DDG2P
- Intellectual disability
- Adult onset leukodystrophy
- Inherited white matter disorders
- Adult onset neurodegenerative disorder
- Congenital adrenal hypoplasia
- Likely inborn error of metabolism
- Hereditary spastic paraplegia
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
- Childhood onset hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
12 May 2018, Gel status: 4
Set penetrance
Ellen McDonagh (Genomics England Curator)Phenotypes for gene ABCD1 were set to Cerebral Adrenoleukodystrophy (CALD)
2 May 2018, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)ABCD1 was added to Gene therapy clinical trials panel. Sources: ClinicalTrials.gov,Expert Review Green
2 May 2018, Gel status: 4
Created
Ellen McDonagh (Genomics England Curator)ABCD1 was created by Ellen McDonagh