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Early onset or syndromic epilepsy


Amber List (moderate evidence)

JAKMIP1 (janus kinase and microtubule interacting protein 1)
EnsemblGeneIds (GRCh38): ENSG00000152969
EnsemblGeneIds (GRCh37): ENSG00000152969
OMIM: 611195, Gene2Phenotype
JAKMIP1 is in 2 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. Currently there are only 2 cases; however, there is very little information about the two cases in the papers. Therefore, this gene has been given an Amber rating until more evidence is available.
Created: 11 Oct 2021, 9:16 a.m. | Last Modified: 11 Oct 2021, 9:16 a.m.
Panel Version: 3.1334

Zornitza Stark (Australian Genomics)

I don't know

Identified in two independent patients in the literature with a mouse model. Patient 1 (27799067) with developmental delay, speech delay, and cognitive impairment; self-injurious and aggressive behaviour, seizures, dysmorphic features. De-novo missense JAKMIP1 (p.D586H). Patient 2 (29158550) with feeding difficulties, hypotonia, epilepsy, severe ID, no active speech, kyphoscoliosis, constipation, autism, short stature. Splice variant c.1432-2A>G, no segregation or RNA data available. KO mouse model (27799067) displays social deficits, stereotyped activity, abnormal postnatal vocalizations, and other autistic-like behaviors.
Sources: Literature
Created: 9 Sep 2021, 10:39 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Intellectual disability; seizures



Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Expert Review Amber
  • Literature
  • Intellectual disability, MONDO:0001071
  • seizures
Clinvar variants
Variants in JAKMIP1
Panels with this gene

History Filter Activity

11 Oct 2021, Gel status: 2

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: JAKMIP1 was added gene: JAKMIP1 was added to Genetic epilepsy syndromes. Sources: Literature,Expert Review Amber watchlist tags were added to gene: JAKMIP1. Mode of inheritance for gene: JAKMIP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: JAKMIP1 were set to 29158550; 26627310; 27799067 Phenotypes for gene: JAKMIP1 were set to Intellectual disability, MONDO:0001071; seizures