Ataxia and cerebellar anomalies - narrow panel
Gene: CLPPEnsemblGeneIds (GRCh38): ENSG00000125656
EnsemblGeneIds (GRCh37): ENSG00000125656
OMIM: 601119, Gene2Phenotype
CLPP is in 14 panels
2 reviews
Sarah Leigh (Genomics England Curator)
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)
Neurological abnormalities including cerebellar ataxia are present in some individuals with this condition.
Sources: Expert listCreated: 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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Perrault syndrome 3 OMIM:614129
- Perrault syndrome 3 MONDO:0013588
- OMIM
- 601119
- Clinvar variants
- Variants in CLPP
- Penetrance
- None
- Publications
- Panels with this gene
-
- Possible mitochondrial disorder - nuclear genes
- Fetal anomalies
- Ataxia and cerebellar anomalies - narrow panel
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Mitochondrial disorders
- White matter disorders and cerebral calcification - narrow panel
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Hypogonadotropic hypogonadism
- DDG2P
- Primary ovarian insufficiency
- Hypogonadotropic hypogonadism (GMS)
- Monogenic hearing loss
History Filter Activity
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: CLPP were set to 25254289
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
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: clpp has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: clpp has been classified as Amber List (Moderate Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: CLPP were set to 25254289
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
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