Ataxia and cerebellar anomalies - narrow panel
Gene: CLPP
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
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
Publications for gene: CLPP were set to 25254289
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
Gene: clpp has been classified as Amber List (Moderate Evidence).
Gene: clpp has been classified as Amber List (Moderate Evidence).
Publications for gene: CLPP were set to 25254289
Phenotypes for gene: CLPP were changed from Perrault syndrome 3, MIM# 614129 to Perrault syndrome 3 OMIM:614129; Perrault syndrome 3 MONDO:0013588
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