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  3. CLPP
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Leukodystrophy - 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)

Prominent white matter changes identified in at least three unrelated individuals.
Created: 15 Sep 2020, 9:53 a.m. | Last Modified: 15 Sep 2020, 9:53 a.m.
Panel Version: 0.179

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Perrault syndrome 3, MIM# 614129

Publications

Created: 15 Sep 2020, 9:53 a.m.
Last Modified: 15 Sep 2020, 9:53 a.m.
Panel version: 0.179

History Filter Activity

15 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).

30 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: CLPP was added gene: CLPP was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: CLPP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLPP were set to 27899912 Phenotypes for gene: CLPP were set to Perrault syndrome 3, MIM#614129