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Leukodystrophy - adult onset

Gene: SPAST

Amber List (moderate evidence)
SPAST (spastin)
EnsemblGeneIds (GRCh38): ENSG00000021574
EnsemblGeneIds (GRCh37): ENSG00000021574
OMIM: 604277, Gene2Phenotype
SPAST is in 10 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

At least 3 cases reported with white matter abnormalities. It is unclear whether leukodystrophy is a prominent feature of the condition.
Created: 19 Jan 2020, 8:25 a.m. | Last Modified: 19 Jan 2020, 8:25 a.m.
Panel Version: 0.10

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

Created: 19 Jan 2020, 8:25 a.m.
Last Modified: 19 Jan 2020, 8:25 a.m.
Panel version: 0.10

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Spastic paraplegia 4, autosomal dominant 182601
OMIM
604277
Clinvar variants
Variants in SPAST
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 May 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: spast has been classified as Amber List (Moderate Evidence).

19 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: spast has been classified as Amber List (Moderate Evidence).

19 Jan 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: SPAST was added gene: SPAST was added to Leukodystrophy - adult onset. Sources: Expert list Mode of inheritance for gene: SPAST was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SPAST were set to 23968121 Phenotypes for gene: SPAST were set to Spastic paraplegia 4, autosomal dominant 182601 Review for gene: SPAST was set to RED