Cerebral Palsy
Gene: ABCD1
ABCD1 (ATP binding cassette subfamily D member 1)
EnsemblGeneIds (GRCh38): ENSG00000101986
EnsemblGeneIds (GRCh37): ENSG00000101986
OMIM: 300371, Gene2Phenotype
ABCD1 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000101986
EnsemblGeneIds (GRCh37): ENSG00000101986
OMIM: 300371, Gene2Phenotype
ABCD1 is in 17 panels
1 review
Clare van Eyk (University of Adelaide)
1 male with hemizygous pathogenic missense variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.
Variable age of onset, even within same family. Heterozygous females may develop spastic paraparesis with bowel and bladder difficulties.
Sources: LiteratureCreated: 24 Jun 2024, 7:35 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Adrenoleukodystrophy, MIM#300100
Publications
- PMID: 38693247
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Red
- Phenotypes
-
- Adrenoleukodystrophy, MIM#300100
- OMIM
- 300371
- Clinvar variants
- Variants in ABCD1
- Penetrance
- None
- Publications
-
- PMID: 38693247
- 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
24 Jun 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: abcd1 has been classified as Red List (Low Evidence).
24 Jun 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: abcd1 has been classified as Red List (Low Evidence).
24 Jun 2024, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: ABCD1 was added gene: ABCD1 was added to Cerebral Palsy. Sources: Literature 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 PMID: 38693247 Phenotypes for gene: ABCD1 were set to Adrenoleukodystrophy, MIM#300100 Review for gene: ABCD1 was set to RED