Hereditary spastic paraplegia - childhood onset

Gene: ABCD1

Green List (high evidence)

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

5 reviews

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Green List (high evidence)

Males and females affected; childhood onset and adult onset
Created: 3 May 2019, 12:49 p.m.

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

Publications

Variants in this GENE are reported as part of current diagnostic practice

Louise Daugherty (Genomics England Curator)

I don't know

Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Created: 9 May 2019, 4:54 p.m.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

victoria-Also childhood . Several publications,Ion Shefflieds HSP panel
Created: 28 Apr 2019, 4:16 p.m.

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

Arianna Tucci (Genomics England Curator)

Onset ranges from childhood to adulthood
Created: 25 Feb 2019, 11:20 a.m.

Rebecca Foulger (Genomics England curator)

Comment on list classification: Updated rating from Red to Green following review on the Hereditary spastic paraplegia panel.
Created: 7 Jan 2019, 2:34 p.m.

History Filter Activity

13 May 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: ABCD1 were set to 23664929; 11739809; 26049658; 27084228; 11810273

13 May 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to ABCD1.

28 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ABCD1.

28 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to ABCD1.

3 Apr 2019, Gel status: 3

Set Phenotypes, Set publications, Status Update

Louise Daugherty (Genomics England Curator)

Added phenotypes spastic paraparesis; VLCFA accumulation; adrenal failure; Hereditary spastic paraplegia for gene: ABCD1 Publications for gene ABCD1 were changed from 11810273; 27084228; 11739809; 26049658; 23664929 to 23664929; 11739809; 26049658; 27084228; 11810273 Rating Changed from Green List (high evidence) to Green List (high evidence)

28 Jan 2019, Gel status: 3

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Rebecca Foulger: Comment on list classification

7 Jan 2019, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: ABCD1 were set to

7 Jan 2019, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: ABCD1 were changed from adrenal failure; VLCFA accumulation; Hereditary spastic paraplegia to adrenal failure; VLCFA accumulation; Hereditary spastic paraplegia; spastic paraparesis

7 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

19 Dec 2018, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: ABCD1 was added gene: ABCD1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Red,Literature 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 adrenal failure; VLCFA accumulation; Hereditary spastic paraplegia