Ataxia and cerebellar anomalies - narrow panel
Gene: JKAMPEnsemblGeneIds (GRCh38): ENSG00000050130
EnsemblGeneIds (GRCh37): ENSG00000050130
OMIM: 611176, Gene2Phenotype
JKAMP is in 4 panels
1 review
Ida Ertmanska (Genomics England Curator)
The gene was erroneously added - it is not associated with ataxia or cerebellar anomalies.Created: 16 Feb 2026, 3:24 p.m. | Last Modified: 16 Feb 2026, 3:24 p.m.
Panel Version: 8.59
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Removed
- Literature
- Phenotypes
-
- neurodevelopmental disorder, MONDO:0700092
- Tags
- OMIM
- 611176
- Clinvar variants
- Variants in JKAMP
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Ida Ertmanska (Genomics England Curator)Gene: jkamp has been removed from the panel.
Removed Tag, Added Tag
Ida Ertmanska (Genomics England Curator)Tag Q1_26_promote_green was removed from gene: JKAMP. Tag curated_removed tag was added to gene: JKAMP.
Entity classified by Genomics England curator
Ida Ertmanska (Genomics England Curator)Gene: jkamp has been classified as Amber List (Moderate Evidence).
Added Tag
Ida Ertmanska (Genomics England Curator)Tag Q1_26_promote_green tag was added to gene: JKAMP.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ida Ertmanska (Genomics England Curator)gene: JKAMP was added gene: JKAMP was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Literature Mode of inheritance for gene: JKAMP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: JKAMP were set to 41643666 Phenotypes for gene: JKAMP were set to neurodevelopmental disorder, MONDO:0700092 Review for gene: JKAMP was set to GREEN