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  2. Hereditary spastic paraplegia
  3. SPG21
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Hereditary spastic paraplegia

Gene: SPG21

Green List (high evidence)
SPG21 (SPG21, maspardin)
EnsemblGeneIds (GRCh38): ENSG00000090487
EnsemblGeneIds (GRCh37): ENSG00000090487
OMIM: 608181, Gene2Phenotype
SPG21 is in 8 panels

2 reviews

helen kingston (CMFT NHS Foundation Trust, Manchester)

Green List (high evidence)

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

Panel version: 0

emma baple (Genomics England Curator)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 7 Feb 2016, 4:40 p.m.

Panel version: 0.0

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Spastic Paraplegia, Recessive
OMIM
608181
Clinvar variants
Variants in SPG21
Penetrance
Complete
Publications
  • Simpson et al. (2003)
Panels with this gene

History Filter Activity

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: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SPG21 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SPG21 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SPG21 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SPG21 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SPG21 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SPG21 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SPG21 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

SPG21 was added to Hereditary spastic paraplegiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Expert list

20 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SPG21 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

SPG21 was added to Hereditary spastic paraplegiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Expert list

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SPG21 was added to Hereditary spastic paraplegiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Expert list