Leukodystrophy - paediatric
Gene: SPART

SPART (spartin)
EnsemblGeneIds (GRCh38): ENSG00000133104
EnsemblGeneIds (GRCh37): ENSG00000133104
OMIM: 607111, Gene2Phenotype
SPART is in 8 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

White matter abnormalities reported in at least 3 unrelated families, including the original Amish family where the condition was first described.
Sources: Expert list
Created: 19 Jan 2020, 7:49 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Troyer syndrome 275900

Publications

Created: 19 Jan 2020, 7:49 a.m.

Panel version: 0.43

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert list

Phenotypes

Troyer syndrome 275900

OMIM

607111

Clinvar variants

Variants in SPART

Penetrance

None

Publications

Panels with this gene

History Filter Activity

19 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

19 Jan 2020, Gel status: 1

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