White matter disorders and cerebral calcification - narrow panel
Gene: SPG7

SPG7 (SPG7, paraplegin matrix AAA peptidase subunit)
EnsemblGeneIds (GRCh38): ENSG00000197912
EnsemblGeneIds (GRCh37): ENSG00000197912
OMIM: 602783, Gene2Phenotype
SPG7 is in 20 panels

0 reviews

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Red

Phenotypes

Spastic paraplegia 7, autosomal recessive, OMIM:607259
hereditary spastic paraplegia 7, MONDO:0011803

OMIM

602783

Clinvar variants

Variants in SPG7

Penetrance

None

Publications

Panels with this gene

History Filter Activity

11 Apr 2023, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: SPG7 were set to 22571692, 17646629

11 Apr 2023, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: SPG7 were changed from Spastic paraplegia 7, autosomal recessive, MIM#607259 to Spastic paraplegia 7, autosomal recessive, OMIM:607259; hereditary spastic paraplegia 7, MONDO:0011803

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1

19 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: SPG7 was added gene: SPG7 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: SPG7 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SPG7 were set to 22571692, 17646629 Phenotypes for gene: SPG7 were set to Spastic paraplegia 7, autosomal recessive, MIM#607259

White matter disorders and cerebral calcification - narrow panel Gene: SPG7