KCTD7

Curated reports relevant to this gene

• Neuronal Ceroid Lipofuscinosis

  • Autosomal recessive

    A group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina.

    • 4 GenCC submitters rate it definitive or strong

Broader groupings

• Congenital Disorders of Glycosylation

  • Congenital Disorders of Glycosylation (CDG)

    One of 98 genes linked to it

    A large group of inherited conditions in which sugar chains (glycans) are not correctly built or attached to proteins and lipids, often affecting the brain, liver, blood clotting, growth and many other body systems. Most are autosomal recessive, but some are X-linked or autosomal dominant.

    • 4 GenCC submitters rate it definitive or strong

• Epilepsy (Full Panel)

  • Epilepsy

    One of 171 genes linked to it

    A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.

    • ClinGen rates the link definitive
    • 5 GenCC submitters rate it definitive or strong

• Lysosomal Storage Disease

  • Lysosomal storage disease (other and unspecified types)

    One of 59 genes linked to it

    Covers lysosomal storage diseases without a dedicated report, such as Farber disease and other ASAH1-related disorders, prosaposin (PSAP) deficiencies, multiple sulfatase deficiency, mucopolysaccharidosis types IX and X, and Dorfman-Chanarin disease; inheritance varies by subtype, most often autosomal recessive.

    • 4 GenCC submitters rate it definitive or strong

How KCTD7 is laid out

Exons make up 4.9 kb of the gene's 14.2 kb; 870 of those bases code for the protein.

How a genome test reads KCTD7

Genes linked to the same conditions

• CLN8CLN8 transmembrane ER and ERGIC proteinShares 3 conditions
• ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunitShares 2 conditions
• ATP6AP2ATPase H+ transporting accessory protein 2Shares 2 conditions
• CADcarbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotaseShares 2 conditions
• CLCN6Cl-/H+ antiporter 6Shares 2 conditions
• CLN3CLN3 lysosomal/endosomal transmembrane protein, batteninShares 2 conditions
• CLN5CLN5 lysosomal BMP synthaseShares 2 conditions
• CLN6CLN6 transmembrane ER proteinShares 2 conditions
• CTSDcathepsin DShares 2 conditions
• CTSFcathepsin FShares 2 conditions
• DNAJC5DnaJ heat shock protein family (Hsp40) member C5Shares 2 conditions
• GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinaseShares 2 conditions

Traits linked to KCTD7

The Human Phenotype Ontology lists these as features of the rare conditions KCTD7 can cause. Each trait's page lists the other genes linked to it.

External links

Where this comes from

• HGNC: the gene's symbol, name, other symbols and location.
• MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
• GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
• The ACMG secondary findings list, SF v3.2.
• ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
• The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
• Data release 2026.10.16-c6eea6bf.

Cite this page