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Intellectual disability

Gene: C12orf66

Amber List (moderate evidence)
C12orf66 (chromosome 12 open reading frame 66)
EnsemblGeneIds (GRCh38): ENSG00000174206
EnsemblGeneIds (GRCh37): ENSG00000174206
OMIM: 617420, Gene2Phenotype
C12orf66 is in 3 panels

1 review

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is sufficient evidence to promote this gene to Green the next GMS panel update.
Created: 17 Mar 2025, 4:11 p.m. | Last Modified: 17 Mar 2025, 4:11 p.m.
Panel Version: 8.149
Added new-gene-name tag, new approved HGNC gene symbol for C12orf66 is KICS2
Created: 17 Mar 2025, 4:09 p.m. | Last Modified: 17 Mar 2025, 4:09 p.m.
Panel Version: 8.148
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.
Created: 17 Mar 2025, 4:07 p.m. | Last Modified: 17 Mar 2025, 4:07 p.m.
Panel Version: 8.148
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
Created: 17 Mar 2025, 4 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual developmental disorder, autosomal recessive 83, OMIM:621100

Publications

Created: 17 Mar 2025, 4 p.m.

Panel version: 8.148

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 83, OMIM:621100
Tags
new-gene-name Q1_25_ promote_green
OMIM
617420
Clinvar variants
Variants in C12orf66
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Mar 2025, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: c12orf66 has been classified as Amber List (Moderate Evidence).

17 Mar 2025, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: c12orf66 has been classified as Amber List (Moderate Evidence).

17 Mar 2025, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

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