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Intellectual disability

Gene: JKAMP

Amber List (moderate evidence)
JKAMP (JNK1/MAPK8 associated membrane protein)
EnsemblGeneIds (GRCh38): ENSG00000050130
EnsemblGeneIds (GRCh37): ENSG00000050130
OMIM: 611176, Gene2Phenotype
JKAMP is in 4 panels

1 review

Ida Ertmanska (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There are 14 affected individuals from 10 unrelated families reported in literature with biallelic JKAMP variants and a neurodevelopmental disorder. All individuals presented with syndromic developmental delay / regression and intellectual disability. The human phenotype was partially recapitulated by knockout studies in zebrafish. Based on available evidence, JKAMP should be promoted to Green for Intellectual disability at the next update.
Created: 10 Feb 2026, 12:39 p.m. | Last Modified: 10 Feb 2026, 12:39 p.m.
Panel Version: 9.248
PMID: 41643666 Chacon-Millan et al., 2026
Report of 14 affected individuals from 10 unrelated families with biallelic JKAMP variants and a neurodevelopmental disorder. Individuals came from European and Arab backgrounds; age range 18mo - 25yrs. Several frameshift, missense and splice variants reported (homozygous and compound heterozygous states). Phenotype spectrum: moderate-profound neurodevelopmental delay and ID (14/14), neurodevelopmental regression (5/14), early onset epilepsy (14/14, median age of onset 6.5 months), hypotonia (13/14), microcephaly (5/14, severity not stated), various ocular manifestations (5/14), genitourinary malformations (3/14), and other (less common).
MRI findings: cortical and or cerebral atrophy (11/14), delayed myelination (6/14).
Additional functional evidence: Knockout jkamp-/- zebrafish were generated using CRISPR. Roughly half of the knockout fish had a mild phenotype, and half a 'severe' phenotype - similar to variable severity seen in patient cohort. Morphant phenotype consisted of smaller eyes and heads, and reduced expression of a myelin marker mbpa, partially recapitulating the human phenotype.

JKAMP is not yet linked to a disease entity in OMIM, Gene2Phenotype, or ClinGen (resources accessed 10th Feb 2026).
Sources: Literature
Created: 10 Feb 2026, 12:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
neurodevelopmental disorder, MONDO:0700092

Publications

Created: 10 Feb 2026, 12:36 p.m.

Panel version: 9.247

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
Tags
Q1_26_promote_green
OMIM
611176
Clinvar variants
Variants in JKAMP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Feb 2026, Gel status: 2

Entity classified by Genomics England curator

Ida Ertmanska (Genomics England Curator)

Gene: jkamp has been classified as Amber List (Moderate Evidence).

10 Feb 2026, Gel status: 1

Added Tag

Ida Ertmanska (Genomics England Curator)

Tag Q1_26_promote_green tag was added to gene: JKAMP.

10 Feb 2026, Gel status: 1

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 Intellectual disability. 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