KEGG VARIANT: 3720v1

VARIANT: 3720v1

Entry

3720v1                      Variant

Name

JARID2 mutation

Type

Loss of function

Gene

JARID2 jumonji and AT-rich interaction domain containing 2 [KO:K11478]

Organism

hsa_var Human gene variants (Homo sapiens)

Variation

mutations
OmimVar: 601594

Network

nt06523 Epigenetic regulation by Polycomb complexes

Disease

H02618

Developmental delay with variable intellectual disability and dysmorphic facies

Reference

PMID:35887345

Authors

Verberne EA, van der Laan L, Haghshenas S, Rooney K, Levy MA, Alders M, Maas SM, Jansen S, Lieden A, Anderlid BM, Rafael-Croes L, Campeau PM, Chaudhry A, Koolen DA, Pfundt R, Hurst ACE, Tran-Mau-Them F, Bruel AL, Lambert L, Isidor B, Mannens MMAM, Sadikovic B, Henneman P, van Haelst MM

Title

DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome.

Journal

Int J Mol Sci 23:ijms23148001 (2022)
DOI:10.3390/ijms23148001

LinkDB

DBGET integrated database retrieval system