DDG2P
Gene: TCP1

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

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease TCP1-related neurodevelopmental disorder with polymicrogyria is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product;altered gene product structure;decreased gene product level (PMID: 39480921).
Created: 21 Feb 2025, 2:39 p.m. | Last Modified: 21 Feb 2025, 2:39 p.m.

Panel Version: 5.3

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
TCP1-related neurodevelopmental disorder with polymicrogyria

Publications

39480921

Created: 21 Feb 2025, 2:39 p.m.
Last Modified: 21 Feb 2025, 2:39 p.m.
Panel version: 5.3

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

DD-Gene2Phenotype
Expert Review Green

Phenotypes

TCP1-related neurodevelopmental disorder with polymicrogyria

Tags

de novo

OMIM

186980

Clinvar variants

Variants in TCP1

Penetrance

None

Publications

39480921

Panels with this gene

History Filter Activity

21 Feb 2025, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag de novo tag was added to gene: TCP1.

21 Feb 2025, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: TCP1 was added gene: TCP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TCP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TCP1 were set to 39480921 Phenotypes for gene: TCP1 were set to TCP1-related neurodevelopmental disorder with polymicrogyria

DDG2P Gene: TCP1