Autism

Gene: CMIP

I don't know

Not associated with a phenotype in OMIM, Gen2Phen or MONDO. Four cases have been reported with haploinsufficiency of all or part of the CMIP gene, caused by deletions ranging from 2.21mb - 248kb (PMID: 22689534, 28504353, Decipher - patient: 262348). These deletions were de novo in the three cases where data was available. Developmental delay was apparent in all of the four cases, with autism disorder (AD) being recorded in the three cases from PMID: 22689534, 28504353, and intellectual disability (ID) being recorded in the Decipher patient. To date there is no further specific clarification of the role of CMIP gene in AD or ID, therefore, this gene cannot be rated as green.

Created: 24 Aug 2023, 2:48 p.m. | Last Modified: 24 Aug 2023, 2:48 p.m.

Panel Version: 0.36

Comment on phenotypes: HP:0012759 Neurodevelopmental abnormality; HP:0000717 Autism; HP:0007018 Attention deficit hyperactivity disorder; HP:0001250 Seizure; HP:0011471 Gastrostomy tube feeding in infancy

Created: 24 Aug 2023, 11:18 a.m. | Last Modified: 24 Aug 2023, 11:18 a.m.

Panel Version: 0.36

Green List (high evidence)

CMIP (MANE Select NM_198390) loss of function-variants (deletions) have been reported in two studies that describes patients with syndromic ASD and co-morbid gastrointestinal issues. See Van der Aa et al., 2012, Haploinsufficiency of CMIP in a girl with autism spectrum disorder and developmental delay due to a de novo deletion on chromosome 16q23.2 (PMID: 22689534); and Luo et al., 2017, CMIP haploinsufficiency in two patients with autism spectrum disorder and co-occurring gastrointestinal issues (PMID: 28504353). In addition, we have observed a local case with a de novo deletion encompassing only the genes CMIP and GAN in a patient with gastrostomy, intellectual disability, autism, ADHD and seizures.

Created: 16 Aug 2023, 7:29 a.m. | Last Modified: 16 Aug 2023, 7:29 a.m.

Panel Version: 0.31

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
HP:0012759; HP:0000717; HP:0007018; HP:0001250; HP:0011471

Publications

• PMID: 22689534
• 28504353

Mode of pathogenicity
Other

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

I don't know

Each gene in the SFARI Human Gene module has a dedicated entry summary page, see here for more info on this gene: https://gene.sfari.org/database/human-gene/CMIP

Created: 1 Apr 2019, 11:26 a.m.