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Intellectual disability syndromic and non-syndromic

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

As far as I can ascertain, ID has only been reported in one consanguineous family and most affected individuals have the combination of deafness/POF.
Created: 1 Feb 2020, 4:56 a.m. | Last Modified: 1 Feb 2020, 4:56 a.m.
Panel Version: 0.1860

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Perrault syndrome 3, MIM# 614129

Publications

History Filter Activity

1 Feb 2020, 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).

1 Feb 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

1 Feb 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CLPP were set to

1 Feb 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CLPP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

1 Feb 2020, 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).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CLPP was added gene: CLPP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CLPP was set to Unknown