4p16.3 Copy Number Variation - CNVPathwayAtlas

4p16.3 Copy Number Variation

Description

Microdeletion in this region causes Wolf-Hirschhorn syndrome. Typical symptoms are a distinct facial morphology, intellectual disability, psychiatric disorders, seizures, and heart defects.

Genomic location

Assembly:

Coordinates:

Disorder Information from Orphanet

ORPHA:96072 Microduplication syndrome
OMIM:
Prevalence: Unknown
Definition:

4p16.3 microduplication syndrome is a rare genetic syndrome that results from the partial duplication of the short arm of chromosome 4. It has a highly variable phenotype, principally characterized by psychomotor and language delay, seizures and dysmorphic features such as high forehead with frontal bossing, hypertelorism, prominent glabella, long narrow palpebral fissures, low set ears and short neck. Eye abnormalities (glaucoma, irregular iris pigmentation, hyperopia) have also been reported.

Phenotypic features: No phenotypes available for now

Molecular pathway

View on WikiPathways

Gene Information

HGNC Gene Name NCBI Ensembl UniProt
FAM53A family with sequence similarity 53 member A 152877 ENSG00000174137 Q6NSI3
SLBP stem-loop histone mRNA binding protein 7884 ENSG00000163950 Q14493
TMEM129 transmembrane protein 129, E3 ubiquitin ligase 92305 ENSG00000168936 A0AVI4
TACC3 transforming acidic coiled-coil containing protein 3 10460 ENSG00000013810 Q9Y6A5
FGFR3 fibroblast growth factor receptor 3 2261 ENSG00000068078 P22607
LETM1 leucine zipper and EF-hand containing transmembrane protein 1 3954 ENSG00000168924 O95202
NSD2 nuclear receptor binding SET domain protein 2 7468 ENSG00000109685 O96028
NELFA negative elongation factor complex member A 7469 ENSG00000185049 Q9H3P2
NICOL1 NELL2 interacting cell ontogeny regulator 1 401115 ENSG00000243449 Q5BLP8
NAT8L N-acetyltransferase 8 like 339983 ENSG00000185818 Q8N9F0
POLN DNA polymerase nu 353497 ENSG00000130997 Q7Z5Q5

Evidence