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Hereditary spastic paraplegia

Gene: SPART

Green List (high evidence)
SPART (spartin)
EnsemblGeneIds (GRCh38): ENSG00000133104
EnsemblGeneIds (GRCh37): ENSG00000133104
OMIM: 607111, Gene2Phenotype
SPART is in 9 panels

3 reviews

helen kingston (CMFT NHS Foundation Trust, Manchester)

Green List (high evidence)

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

Louise Daugherty (Genomics England Curator)

added new-gene-name tag. Approved HGNC gene symbol is SPART
Created: 1 Jun 2017, 12:39 p.m.
Created: 1 Jun 2017, 12:39 p.m.

Panel version: 1.11

emma baple (Genomics England Curator)

Green List (high evidence)

Biallelic loss of function mutations described in the Amish, Oman and Turkish populations
Created: 7 Feb 2016, 6:12 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 7 Feb 2016, 6:12 p.m.

Panel version: 0.0

History Filter Activity

20 Aug 2021, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: SPART were set to Patel et al. (2002

20 Aug 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SPART were changed from to Troyer syndrome, OMIM:275900; Spastic paraplegia 20

5 Nov 2017, Gel status: 4

Changed Gene Name

GEL ()

SPG20 was changed to SPART

5 Nov 2017, Gel status: 4

Removed Tag

GEL ()

new-gene-name was removed from SPG20. Panel: Hereditary spastic paraplegia

9 Mar 2016, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Mar 2016, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

20 Jul 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SPG20 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SPG20 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SPG20 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SPG20 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SPG20 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SPG20 was added to Hereditary spastic paraplegiapanel. Sources: UKGTN,Expert list

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SPG20 was added to Hereditary spastic paraplegiapanel. Sources: UKGTN,Expert list