16p11.2-distal Copy Number Variation
Description
Genomic location GRCh37/hg19
Disorder Information from Orphanet
-
ORPHA:
261222
Microdeletion syndrome
OMIM: 613444
Disease description: No description available.
World-wide prevalence: Unknown
Very frequent (99–80%) phenotypic features: Narrow mouth, Low anterior hairline, Oval face, Prominent nasal bridge, Rod-cone dystrophy, Retinal dystrophy, Delayed speech and language development, Global developmental delay, Arachnodactyly, Neonatal hypotonia, Attention deficit hyperactivity disorder
Interactive Pathway Viewer
Gene Information
| HGNC | Gene Name | NCBI | Ensembl | UniProt |
|---|---|---|---|---|
| ATXN2L | ataxin 2 like | 11273 | ENSG00000168488 | Q8WWM7 |
| TUFM | Tu translation elongation factor, mitochondrial | 7284 | ENSG00000178952 | P49411 |
| SH2B1 | SH2B adaptor protein 1 | 25970 | ENSG00000178188 | Q9NRF2 |
| ATP2A1 | ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 | 487 | ENSG00000196296 | O14983 |
| RABEP2 | rabaptin, RAB GTPase binding effector protein 2 | 79874 | ENSG00000177548 | Q9H5N1 |
| CD19 | CD19 molecule | 930 | ENSG00000177455 | P15391 |
| NFATC2IP | nuclear factor of activated T cells 2 interacting protein | 84901 | ENSG00000176953 | Q8NCF5 |
| SPNS1 | SPNS lysolipid transporter 1, lysophospholipid | 83985 | ENSG00000169682 | Q9H2V7 |
| LAT | linker for activation of T cells | 27040 | ENSG00000213658 | O43561 |