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Malformations of cortical development

Gene: TCP1

Amber List (moderate evidence)
TCP1 (t-complex 1)
EnsemblGeneIds (GRCh38): ENSG00000120438
EnsemblGeneIds (GRCh37): ENSG00000120438
OMIM: 186980, Gene2Phenotype
TCP1 is in 5 panels

1 review

Ida Ertmanska (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There are more than 3 unrelated individuals reported with malformations of cortical development and heterozygous TCP1 variants - tagged for promotion to Green at the next update.
Created: 20 Feb 2026, 9:34 a.m. | Last Modified: 20 Feb 2026, 9:34 a.m.
Panel Version: 7.25
PMID: 39480921 Kraft et al., 2024
8 individuals reported with heterozygous TCP1 (CCT1) variants (frameshift, missense, stop gain - 5 confirmed de novo). Patients presented with ID, seizures, and brain malformations. Phenotype spectrum: DD/ID of variable severity (6/6 assessed), seizures (6/7), visual impairment (2/7), pyramidal signs (4 individuals), brain MRI abnormalities (7/8). MRI findings included polymicrogyria, heterotopia, ventriculomegaly and white matter hyperintensities, hypoplasia of corpus callosum.

TCP1 is associated with Intellectual developmental disorder with polymicrogyria and seizures, OMIM:621021 (OMIM accessed 20th Feb 2026).
Sources: Literature
Created: 20 Feb 2026, 9:23 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual developmental disorder with polymicrogyria and seizures, OMIM:621021

Publications

Created: 20 Feb 2026, 9:23 a.m.

Panel version: 7.24

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Intellectual developmental disorder with polymicrogyria and seizures, OMIM:621021
  • intellectual developmental disorder with polymicrogyria and seizures, MONDO:0976124
Tags
Q1_26_promote_green
OMIM
186980
Clinvar variants
Variants in TCP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2026, Gel status: 2

Set Phenotypes

Ida Ertmanska (Genomics England Curator)

Phenotypes for gene: TCP1 were changed from Intellectual developmental disorder with polymicrogyria and seizures, OMIM:621021 to Intellectual developmental disorder with polymicrogyria and seizures, OMIM:621021; intellectual developmental disorder with polymicrogyria and seizures, MONDO:0976124

20 Feb 2026, Gel status: 2

Entity classified by Genomics England curator

Ida Ertmanska (Genomics England Curator)

Gene: tcp1 has been classified as Amber List (Moderate Evidence).

20 Feb 2026, Gel status: 1

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

Ida Ertmanska (Genomics England Curator)

gene: TCP1 was added gene: TCP1 was added to Malformations of cortical development. Sources: Literature Q1_26_promote_green tags were added to gene: TCP1. Mode of inheritance for gene: TCP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TCP1 were set to 39480921 Phenotypes for gene: TCP1 were set to Intellectual developmental disorder with polymicrogyria and seizures, OMIM:621021 Review for gene: TCP1 was set to GREEN