16p11.2-distal Copy Number Variation - CNVPathwayAtlas

16p11.2-distal Copy Number Variation

Description

16p11.2 distal copy number variation includes 9 protein coding genes. An important gene hoever is SH2B1 (MIM#608937) which is associated with obesity and developmental delay (Bachmann-Gagescu et al., 2010).

Genomic location

Assembly:

Coordinates:

Disorder Information from Orphanet

ORPHA:261222 Microdeletion syndrome
OMIM: 613444
Prevalence: Unknown
Definition:

Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated.

Phenotypic features:
Obligate
(100%)		 Very frequent
(99–80%)		 Frequent
(79–30%)		 Occasional
(29–5%)		 Very rare
(<4-1%)		 Excluded
(0%)
- - -

Molecular pathway

View on WikiPathways

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

Evidence