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Genetic Epilepsy

Gene: JMJD1C

Amber List (moderate evidence)

JMJD1C (jumonji domain containing 1C)
EnsemblGeneIds (GRCh38): ENSG00000171988
EnsemblGeneIds (GRCh37): ENSG00000171988
OMIM: 604503, Gene2Phenotype
JMJD1C is in 3 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

I don't know

PMID: 32996679 - de novo synonymous variant resulting in a 21bp deletion, who had learning disability and myoclonic epilepsy (onset 10yo).
Paper reviews prev reports, notes only 1/19 other patients with seizures (p.P163L)

PMID: 26181491 - de novo p.P163L (same as above), in a proband with gait dyspraxia, hand-washing stereotype, learning impairment, teeth grinding, air swallowing, kyphoscoliosis, and tonic epilepsy. Functional studies support missense pathogenicity.

PMID: 31954878 - 2/7 patients with de novo variants with ASD, ID and seizures. One proband had a de novo missense (p.V117I), another a PTC (p.P109Lfs*3) of unknown inheritance
Sources: Literature
Created: 25 Jan 2024, 3:34 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Intellectual disability (MONDO#0001071), JMJD1C-related

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Intellectual disability (MONDO#0001071), JMJD1C-related
OMIM
604503
Clinvar variants
Variants in JMJD1C
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Jan 2024, Gel status: 2

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: jmjd1c has been classified as Amber List (Moderate Evidence).

25 Jan 2024, Gel status: 2

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: jmjd1c has been classified as Amber List (Moderate Evidence).

25 Jan 2024, Gel status: 1

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: jmjd1c has been classified as Red List (Low Evidence).

25 Jan 2024, Gel status: 1

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

Elena Savva (Victorian Clinical Genetics Services)

gene: JMJD1C was added gene: JMJD1C was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: JMJD1C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: JMJD1C were set to PMID: 32996679; 26181491; 31954878 Phenotypes for gene: JMJD1C were set to Intellectual disability (MONDO#0001071), JMJD1C-related Review for gene: JMJD1C was set to AMBER