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Hereditary Spastic Paraplegia - paediatric

Gene: CLPP

Red List (low evidence)
CLPP (caseinolytic mitochondrial matrix peptidase proteolytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000125656
EnsemblGeneIds (GRCh37): ENSG00000125656
OMIM: 601119, Gene2Phenotype
CLPP is in 15 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Spastic paraplegia is not a prominent feature of this condition. A single family with a complicated HSP phenotype has been reported.
Created: 19 Apr 2020, 9:04 a.m. | Last Modified: 19 Apr 2020, 9:04 a.m.
Panel Version: 0.65

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Perrault syndrome 3 MIM#614129

Publications

Created: 19 Apr 2020, 9:04 a.m.
Last Modified: 19 Apr 2020, 9:04 a.m.
Panel version: 0.65

History Filter Activity

14 Mar 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: clpp has been classified as Red List (Low Evidence).

14 Mar 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CLPP were changed from Perrault syndrome 3 to Perrault syndrome 3 MIM#614129

14 Mar 2021, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CLPP were set to

31 Dec 2019, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: CLPP was added gene: CLPP was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital Mode of inheritance for gene: CLPP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLPP were set to Perrault syndrome 3