Peroxisomal Disorders
Gene: ABCD1EnsemblGeneIds (GRCh38): ENSG00000101986
EnsemblGeneIds (GRCh37): ENSG00000101986
OMIM: 300371, Gene2Phenotype
ABCD1 is in 17 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Classified as DEFINITIVE by ClinGen Peroxisomal Disorders GCEP
"The mechanism for disease is expected to be hemizygous loss of function. Female carriers are sometimes symptomatic with elevated VLCFA levels."Created: 9 Apr 2024, 4:59 a.m. | Last Modified: 9 Apr 2024, 4:59 a.m.
Panel Version: 0.47
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
adrenoleukodystrophy (MONDO:0018544)
Publications
- https://search.clinicalgenome.org/CCID:004013c
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- adrenoleukodystrophy (MONDO:0018544)
- OMIM
- 300371
- Clinvar variants
- Variants in ABCD1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - adult onset
- Prepair 1000+
- Hereditary Neuropathy - complex
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Regression
- Hereditary Spastic Paraplegia - adult onset
- Leukodystrophy - paediatric
- Fetal anomalies
- Additional findings_Paediatric
- Ataxia - adult onset
- Mendeliome
- Prepair 500+
- Hereditary Spastic Paraplegia - paediatric
- Peroxisomal Disorders
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: abcd1 has been classified as Green List (High Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: ABCD1 were set to 15811009; 8651290; 7825602; 21700483
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: ABCD1 were set to 15811009; 8651290; 7825602, 21700483
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: ABCD1 were set to
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ABCD1 were changed from to adrenoleukodystrophy (MONDO:0018544)
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: ABCD1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: ABCD1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ABCD1 was added gene: ABCD1 was added to Peroxisomal Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ABCD1 was set to Unknown