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  2. Leukodystrophy - adult onset
  3. SPG21
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Leukodystrophy - adult onset

Gene: SPG21

Green List (high evidence)
SPG21 (SPG21, maspardin)
EnsemblGeneIds (GRCh38): ENSG00000090487
EnsemblGeneIds (GRCh37): ENSG00000090487
OMIM: 608181, Gene2Phenotype
SPG21 is in 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: New HGNC approved name is SPG21.
Created: 25 Sep 2020, 2:52 a.m. | Last Modified: 25 Sep 2020, 2:52 a.m.
Panel Version: 0.82
Created: 25 Sep 2020, 2:52 a.m.
Last Modified: 25 Sep 2020, 2:52 a.m.
Panel version: 0.82

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Three patients reported with white matter abnormalities, diagnosed with Mast syndrome.
Sources: Expert list
Created: 19 Jan 2020, 9:08 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mast syndrome 248900

Publications

Created: 19 Jan 2020, 9:08 a.m.

Panel version: 0.12

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mast syndrome 248900
Tags
new gene name
OMIM
608181
Clinvar variants
Variants in SPG21
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: spg21 has been classified as Green List (High Evidence).

25 Sep 2020, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag new gene name tag was added to gene: SPG21.

3 May 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: spg21 has been classified as Green List (High Evidence).

19 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: spg21 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

Bryony Thompson (Royal Melbourne Hospital)

gene: SPG21 was added gene: SPG21 was added to Leukodystrophy - adult onset. Sources: Expert list Mode of inheritance for gene: SPG21 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPG21 were set to 14564668 Phenotypes for gene: SPG21 were set to Mast syndrome 248900 Review for gene: SPG21 was set to GREEN