White matter disorders and cerebral calcification - narrow panel
Gene: ABCD1EnsemblGeneIds (GRCh38): ENSG00000101986
EnsemblGeneIds (GRCh37): ENSG00000101986
OMIM: 300371, Gene2Phenotype
ABCD1 is in 16 panels
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Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Phenotypes
-
- Adrenoleukodystrophy, OMIM:300100
- Adrenoleukodystrophy, adult, OMIM:300100
- OMIM
- 300371
- Clinvar variants
- Variants in ABCD1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Peroxisomal disorders
- Hereditary neuropathy or pain disorder
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Intellectual disability
- Inherited white matter disorders
- Fetal anomalies
- Adult onset leukodystrophy
- Congenital adrenal hypoplasia
- Childhood onset hereditary spastic paraplegia
- Adult onset neurodegenerative disorder
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary spastic paraplegia
- DDG2P
- Adult onset hereditary spastic paraplegia
- White matter disorders and cerebral calcification - narrow panel
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ABCD1 were changed from Adrenomyeloneuropathy, adult, 300100; Adrenoleukodystrophy, X-linked; Adrenoleukodystrophy; Adrenoleukodystrophy, 300100; X-Linked Adrenoleukodystrophy to Adrenoleukodystrophy, OMIM:300100; Adrenoleukodystrophy, adult, OMIM:300100
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: ABCD1 was added gene: ABCD1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ABCD1 were set to 8040304; 11810273; 25655951 Phenotypes for gene: ABCD1 were set to Adrenomyeloneuropathy, adult, 300100; Adrenoleukodystrophy, X-linked; Adrenoleukodystrophy; Adrenoleukodystrophy, 300100; X-Linked Adrenoleukodystrophy