KCTD18

potassium channel tetramerization domain containing 18, the group of KCTD family

Basic information

Region (hg38): 2:200488958-200519784

Links

ENSG00000155729 ∙ NCBI:130535 ∙ ∙ HGNC:26446 ∙ Uniprot:Q6PI47 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the KCTD18 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KCTD18 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				6	3	9
missense			19	3	7	29
nonsense						0
start loss						0
frameshift					1	1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	19	9	11

Variants in KCTD18

This is a list of pathogenic ClinVar variants found in the KCTD18 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
2-200490108-C-G		not specified	Uncertain significance (Jun 16, 2024)
2-200490143-G-A		KCTD18-related disorder	Benign (Dec 31, 2019)
2-200490147-G-C		not specified	Uncertain significance (Aug 28, 2023)
2-200490150-C-G		not specified	Uncertain significance (Feb 05, 2024)
2-200490170-T-C		not specified	Uncertain significance (Oct 17, 2023)
2-200490171-T-G		not specified	Uncertain significance (Mar 31, 2024)
2-200490173-A-C		KCTD18-related disorder	Uncertain significance (May 22, 2023)
2-200490199-G-C		KCTD18-related disorder	Benign (Nov 08, 2019)
2-200490209-A-G		not specified	Likely benign (Nov 02, 2023)
2-200490212-C-G		KCTD18-related disorder	Benign (Oct 17, 2019)
2-200490214-AGGCGCGGT-A			Benign (Dec 31, 2019)
2-200490225-C-T		not specified	Uncertain significance (Dec 27, 2022)
2-200490232-C-G		KCTD18-related disorder	Benign (Oct 01, 2019)
2-200490242-T-C		not specified	Uncertain significance (Apr 18, 2023)
2-200490280-G-A		KCTD18-related disorder	Likely benign (Mar 14, 2019)
2-200490296-G-C		not specified	Uncertain significance (Jan 23, 2024)
2-200490310-C-A		KCTD18-related disorder	Likely benign (Jul 29, 2019)
2-200490327-C-T		not specified	Likely benign (Dec 20, 2023)
2-200490375-C-A		KCTD18-related disorder	Benign (Dec 31, 2019)
2-200490383-G-A		KCTD18-related disorder	Benign (Oct 24, 2019)
2-200490426-G-A		not specified	Uncertain significance (Jan 18, 2023)
2-200490444-G-T			Likely benign (Feb 01, 2023)
2-200490466-C-T		KCTD18-related disorder	Likely benign (Jun 24, 2019)
2-200490492-C-A		KCTD18-related disorder	Benign (Jan 31, 2020)
2-200490496-G-A		KCTD18-related disorder	Likely benign (Jan 13, 2020)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KCTD18	protein_coding	protein_coding	ENST00000359878	6	30833

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.86e-8	0.251	125723	0	25	125748	0.0000994

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.372	251	268	0.936	0.0000169	2734
Missense in Polyphen		67	77.53	0.86419		836
Synonymous	0.00246	106	106	1.00	0.00000697	887
Loss of Function	0.411	12	13.6	0.880	6.58e-7	174

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000181	0.000181
Ashkenazi Jewish	0.00	0.00
East Asian	0.000166	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.0000883	0.0000879
Middle Eastern	0.000166	0.000163
South Asian	0.000229	0.000229
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.512
• rvis_EVS: 0.62
• rvis_percentile_EVS: 83.42

Haploinsufficiency Scores

• pHI: 0.226
• hipred: N
• hipred_score: 0.169
• ghis: 0.516

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.330

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Kctd18

Gene ontology

• Biological process: protein homooligomerization