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  3. CLPP
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Ataxia - paediatric

Gene: CLPP

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Neurological abnormalities including cerebellar ataxia are present in some individuals with this condition.
Created: 12 Sep 2020, 2:48 a.m. | Last Modified: 12 Sep 2020, 2:48 a.m.
Panel Version: 0.229

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Perrault syndrome 3, MIM# 614129

Publications

Created: 12 Sep 2020, 2:48 a.m.
Last Modified: 12 Sep 2020, 2:48 a.m.
Panel version: 0.229

History Filter Activity

12 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

12 Sep 2020, Gel status: 3

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

12 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CLPP were set to

19 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: CLPP was added gene: CLPP was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,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