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Malformations of cortical development

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. MRI findings were abnormal in 12/14 subjects, including cortical and or cerebral atrophy (11/14) and delayed myelination (6/14). Based on available evidence, JKAMP should be promoted to Green for Malformations of cortical development.
Created: 10 Feb 2026, 3:37 p.m. | Last Modified: 16 Feb 2026, 3:13 p.m.
Panel Version: 7.21
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, 3:37 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
neurodevelopmental disorder, MONDO:0700092

Publications

Created: 10 Feb 2026, 3:37 p.m.
Last Modified: 16 Feb 2026, 3:13 p.m.
Panel version: 7.20

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 Malformations of cortical development. 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