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Intellectual disability v8.149 C12orf66 Arina Puzriakova Classified gene: C12orf66 as Amber List (moderate evidence)
Intellectual disability v8.149 C12orf66 Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green the next GMS panel update.
Intellectual disability v8.149 C12orf66 Arina Puzriakova Gene: c12orf66 has been classified as Amber List (Moderate Evidence).
Intellectual disability v8.148 C12orf66 Arina Puzriakova commented on gene: C12orf66: Added new-gene-name tag, new approved HGNC gene symbol for C12orf66 is KICS2
Intellectual disability v8.148 C12orf66 Arina Puzriakova commented on gene: C12orf66: PMID: 39824192 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques.
Intellectual disability v8.148 C12orf66 Arina Puzriakova Deleted their comment
Intellectual disability v8.148 C12orf66 Arina Puzriakova Classified gene: C12orf66 as Amber List (moderate evidence)
Intellectual disability v8.148 C12orf66 Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update.
Intellectual disability v8.148 C12orf66 Arina Puzriakova Gene: c12orf66 has been classified as Amber List (Moderate Evidence).
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