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Intellectual disability

Gene: JARID2

Amber List (moderate evidence)

JARID2 (jumonji and AT-rich interaction domain containing 2)
EnsemblGeneIds (GRCh38): ENSG00000008083
EnsemblGeneIds (GRCh37): ENSG00000008083
OMIM: 601594, Gene2Phenotype
JARID2 is in 2 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is sufficient evidence to rate this gene Green at the next GMS panel update (added 'for-review' tag). Multiple unrelated individuals all with DD as the common feature, as well as ID in the majority of cases.
Created: 20 Nov 2020, 2:08 p.m. | Last Modified: 20 Nov 2020, 2:08 p.m.
Panel Version: 3.561
- PMID:33077894 (2020) - 16 patients from 15 families reported with a deletion (8) or SNV (8) in the JARID2 gene. All affected individuals present developmental delay, of which 11/15 had mild-to-moderate ID. Three individuals had borderline intellectual functioning and one had learning difficulties. Other common features include speech impairment (9/16), hypotonia (5/16), epilepsy (3/16), brain MRI abnormalities (4/9), musculoskeletal anomalies (5/16). No functional studies of the variants were performed, but authors predict that several are likely to result in haploinsufficiency due to NMD.
Created: 20 Nov 2020, 2:03 p.m. | Last Modified: 20 Nov 2020, 2:03 p.m.
Panel Version: 3.559

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

Phenotypes
Neurodevelopmental syndrome

Publications

Konstantinos Varvagiannis (Other)

Green List (high evidence)

The publication by Verberne et al (2020 - PMID: 33077894 - Pr. Z. Stark among the co-authors) supports inclusion of this gene with green rating. A detailed review will follow.
Created: 2 Nov 2020, 12:41 p.m. | Last Modified: 2 Nov 2020, 12:41 p.m.
Panel Version: 3.502

Zornitza Stark (Australian Genomics)

Green List (high evidence)

13 individuals reported recently, note CNVs common but LOF sequence variants identified too.
Sources: Literature
Created: 2 Nov 2020, 9:51 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual disability

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Intellectual disability
  • Neurodevelopmental syndrome
Tags
for-review
OMIM
601594
Clinvar variants
Variants in JARID2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Nov 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: jarid2 has been classified as Amber List (Moderate Evidence).

20 Nov 2020, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: JARID2 were changed from Intellectual disability to Intellectual disability; Neurodevelopmental syndrome

20 Nov 2020, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: JARID2.

2 Nov 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: JARID2 was added gene: JARID2 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: JARID2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: JARID2 were set to 23294540; 33077894 Phenotypes for gene: JARID2 were set to Intellectual disability Review for gene: JARID2 was set to GREEN gene: JARID2 was marked as current diagnostic