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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 v0.11 | EN2 | Louise Daugherty reviewed gene: EN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.7 | EN2 | Louise Daugherty Source Expert Review Red was added to EN2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.6 | EN2 |
Louise Daugherty gene: EN2 was added gene: EN2 was added to Autism. Sources: SFARI Mode of inheritance for gene: EN2 was set to |
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