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| Autism v0.36 | CMIP | Sarah Leigh edited their review of gene: CMIP: Added comment: 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.; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.36 | CMIP | Sarah Leigh Added comment: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.36 | CMIP | Sarah Leigh Phenotypes for gene: CMIP were changed from HP:0012759; HP:0000717; HP:0007018; HP:0001250; HP:0011471 to HP:0012759; HP:0000717; HP:0007018; HP:0001250; HP:0011471 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.35 | CMIP | Sarah Leigh Mode of inheritance for gene: CMIP was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.34 | CMIP | Sarah Leigh Phenotypes for gene: CMIP were changed from to HP:0012759; HP:0000717; HP:0007018; HP:0001250; HP:0011471 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.33 | CMIP | Sarah Leigh Classified gene: CMIP as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.33 | CMIP | Sarah Leigh Gene: cmip has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.32 | CMIP | Sarah Leigh Publications for gene: CMIP were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.31 | CMIP | Tord Jonson Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.31 | CMIP | Tord Jonson edited their review of gene: CMIP: Added comment: 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.; Changed mode of pathogenicity: Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.31 | CMIP | Tord Jonson reviewed gene: CMIP: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 22689534, 28504353; Phenotypes: HP:0012759, HP:0000717, HP:0007018, HP:0001250, HP:0011471; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.11 | CMIP | Louise Daugherty reviewed gene: CMIP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.7 | CMIP | Louise Daugherty Source Expert Review Red was added to CMIP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.6 | CMIP |
Louise Daugherty gene: CMIP was added gene: CMIP was added to Autism. Sources: SFARI Mode of inheritance for gene: CMIP was set to |
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