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Intellectual disability

Gene: CMIP

Red List (low evidence)
CMIP (c-Maf inducing protein)
EnsemblGeneIds (GRCh38): ENSG00000153815
EnsemblGeneIds (GRCh37): ENSG00000153815
OMIM: 610112, Gene2Phenotype
CMIP is in 1 panel

2 reviews

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

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, 2:50 p.m. | Last Modified: 24 Aug 2023, 2:50 p.m.
Panel Version: 5.264
Created: 24 Aug 2023, 2:50 p.m.
Last Modified: 24 Aug 2023, 2:50 p.m.
Panel version: 5.264

Tord Jonson (Dep. of Clinical Genetics & Pathology, Lund, Sweden)

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, 7:35 a.m. | Last Modified: 16 Aug 2023, 7:36 a.m.
Panel Version: 5.255

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

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

Created: 16 Aug 2023, 7:35 a.m.
Last Modified: 16 Aug 2023, 7:36 a.m.
Panel version: 5.255

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • HP:0012759
  • HP:0000717
  • HP:0007018
  • HP:0001250
  • HP:0011471
OMIM
610112
Clinvar variants
Variants in CMIP
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

24 Aug 2023, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: cmip has been classified as Red List (Low Evidence).

24 Aug 2023, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: CMIP were set to PMID: 22689534; 28504353

16 Aug 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Tord Jonson (Dep. of Clinical Genetics & Pathology, Lund, Sweden)

gene: CMIP was added gene: CMIP was added to Intellectual disability - microarray and sequencing. Sources: Other Mode of inheritance for gene: CMIP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CMIP were set to PMID: 22689534; 28504353 Phenotypes for gene: CMIP were set to HP:0012759; HP:0000717; HP:0007018; HP:0001250; HP:0011471 Penetrance for gene: CMIP were set to unknown Review for gene: CMIP was set to GREEN gene: CMIP was marked as current diagnostic