Activity
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| Intellectual disability v8.147 | C12orf66 |
Arina Puzriakova gene: C12orf66 was added gene: C12orf66 was added to Intellectual disability. Sources: Literature new-gene-name, Q1_25_ promote_green tags were added to gene: C12orf66. Mode of inheritance for gene: C12orf66 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C12orf66 were set to 39824192 Phenotypes for gene: C12orf66 were set to Intellectual developmental disorder, autosomal recessive 83, OMIM:621100 Review for gene: C12orf66 was set to GREEN Added comment: This gene is associated with a relevant phenotype in OMIM (MIM# 621100) - PMID: 39824192 (2025) - biallelic variants in KICS2 in 11 individuals from 8 families with intellectual disability. All affected individuals had mild to severe intellectual disability, with 8 individuals also presenting with seizures and 3 (2 families) with hearing impairment. Functional studies in cell culture and zebrafish models provided evidence of pathogenicity, showing impaired mTORC1 regulation and effects on ciliogenesis. Sources: Literature |
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| Intellectual disability v5.546 | ORC1 | Arina Puzriakova Phenotypes for gene: ORC1 were changed from Meier-Gorlin syndrome 1, 224690; MEIER-GORLIN SYNDROME 1 to Meier-Gorlin syndrome 1, OMIM:224690 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.468 | ORC1 | Louise Daugherty Source Victorian Clinical Genetics Services was added to ORC1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.408 | ORC1 | Louise Daugherty Publications for gene: ORC1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.407 | ORC1 | Louise Daugherty Classified gene: ORC1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.407 | ORC1 | Louise Daugherty Added comment: Comment on list classification: Although variants of ORC1 can result in microcephaly phenotype, there is no strong evidence for ID. single patient with ORC1 variants was described in this paper HERE, they had mild intellectual disability. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.407 | ORC1 | Louise Daugherty Gene: orc1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability | ORC1 | BRIDGE consortium edited their review of ORC1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability | ORC1 | BRIDGE consortium edited their review of ORC1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability | ORC1 | BRIDGE consortium reviewed ORC1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||