Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: CLPP

Amber List (moderate evidence)

CLPP (caseinolytic mitochondrial matrix peptidase proteolytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000125656
EnsemblGeneIds (GRCh37): ENSG00000125656
OMIM: 601119, Gene2Phenotype
CLPP is in 13 panels

2 reviews

Sarah Leigh (Genomics England Curator)

I don't know

Only one report of ataxia in a consanguineous British Pakistani family with Perrault syndrome 3, due to homozygous CLPP variant rs398123033.
Created: 8 Apr 2021, 5:47 p.m. | Last Modified: 8 Apr 2021, 5:47 p.m.
Panel Version: 2.80

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Neurological abnormalities including cerebellar ataxia are present in some individuals with this condition.
Sources: Expert list
Created: 12 Sep 2020, 2:50 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Perrault syndrome 3, MIM# 614129

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

8 Apr 2021, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: CLPP were set to 25254289

8 Apr 2021, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: CLPP were changed from Perrault syndrome 3 OMIM:614129; Perrault syndrome 3 MONDO:0013588 to Perrault syndrome 3 OMIM:614129; Perrault syndrome 3 MONDO:0013588

8 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: clpp has been classified as Amber List (Moderate Evidence).

7 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: clpp has been classified as Amber List (Moderate Evidence).

7 Apr 2021, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: CLPP were set to 25254289

7 Apr 2021, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: CLPP were changed from Perrault syndrome 3, MIM# 614129 to Perrault syndrome 3 OMIM:614129; Perrault syndrome 3 MONDO:0013588

12 Sep 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: CLPP was added gene: CLPP was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list Mode of inheritance for gene: CLPP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLPP were set to 25254289 Phenotypes for gene: CLPP were set to Perrault syndrome 3, MIM# 614129 Review for gene: CLPP was set to GREEN gene: CLPP was marked as current diagnostic