Hereditary Spastic Paraplegia - adult onset
Gene: ABCD1

ABCD1 (ATP binding cassette subfamily D member 1)
EnsemblGeneIds (GRCh38): ENSG00000101986
EnsemblGeneIds (GRCh37): ENSG00000101986
OMIM: 300371, Gene2Phenotype
ABCD1 is in 17 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Variable age of onset. Spasticity is a feature. Well established gene-disease association.
Sources: Expert list
Created: 16 Sep 2020, 8:25 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Adrenoleukodystrophy, MIM# 300100

Created: 16 Sep 2020, 8:25 a.m.

Panel version: Imported from Hereditary Spastic Paraplegia - paediatric panel version 0.117

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Sources

Expert Review Green
Expert list
Royal Melbourne Hospital

Phenotypes

spastic paraparesis
Hereditary spastic paraplegia
Adrenoleukodystrophy, 300100
VLCFA accumulation
adrenal failure

OMIM

300371

Clinvar variants

Variants in ABCD1

Penetrance

None

Panels with this gene

History Filter Activity

15 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: abcd1 has been classified as Green List (High Evidence).

31 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: ABCD1 was added gene: ABCD1 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital 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) Phenotypes for gene: ABCD1 were set to spastic paraparesis; Hereditary spastic paraplegia; Adrenoleukodystrophy, 300100; VLCFA accumulation; adrenal failure

Hereditary Spastic Paraplegia - adult onset Gene: ABCD1