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  3. CLPP
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Fetal anomalies

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 14 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 20 Feb 2025, 9:40 p.m. | Last Modified: 20 Feb 2025, 9:40 p.m.
Panel Version: 5.16
Created: 20 Feb 2025, 9:40 p.m.
Last Modified: 20 Feb 2025, 9:40 p.m.
Panel version: 5.16

Elizabeth Scotchman (North Thames Genomic Laboratory Hub)

I don't know

Amber on Australian fetal anomalies panel. Most affected individuals have the combination of deafness/POF which would not be detectable antenatally, however, microcephaly reported in some.
Created: 20 Feb 2025, 9:35 p.m. | Last Modified: 20 Feb 2025, 9:35 p.m.
Panel Version: 5.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Perrault syndrome 3, MIM#614129

Publications

Created: 20 Feb 2025, 9:35 p.m.
Last Modified: 20 Feb 2025, 9:35 p.m.
Panel version: 5.15

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for PERRAULT SYNDROME
Created: 11 Dec 2018, 9:04 a.m.
In the original PAGE file, MOP listed as All missense/in frame.
Created: 8 Nov 2018, 4:45 p.m.

Mode of pathogenicity
Other - please provide details in the comments

Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.9

History Filter Activity

20 Feb 2025, Gel status: 2

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: CLPP were changed from Perrault syndrome 3, OMIM:614129; PERRAULT SYNDROME to Perrault syndrome 3, OMIM:614129

20 Feb 2025, Gel status: 2

Added New Source, Set Phenotypes, Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to CLPP. Added phenotypes Perrault syndrome 3, OMIM:614129 for gene: CLPP Publications for gene: CLPP were updated from to 38454547; 37932750; 34338890; 38249302

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: CLPP was added gene: CLPP was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CLPP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLPP were set to PERRAULT SYNDROME