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Intellectual disability

Gene: C12orf66

Green List (high 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)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 12 Mar 2026, 1:33 p.m. | Last Modified: 12 Mar 2026, 1:33 p.m.
Panel Version: 9.299
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: 9.299

Details

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

History Filter Activity

12 Mar 2026, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q1_25_ promote_green was removed from gene: C12orf66.

12 Mar 2026, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source NHS GMS was added to C12orf66. Source Expert Review Green was added to C12orf66. Rating Changed from Amber List (moderate evidence) to Green List (high 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: 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