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  3. TCP1
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Polymicrogyria and Schizencephaly

Gene: TCP1

Green List (high evidence)
TCP1 (t-complex 1)
EnsemblGeneIds (GRCh38): ENSG00000120438
EnsemblGeneIds (GRCh37): ENSG00000120438
OMIM: 186980, Gene2Phenotype
TCP1 is in 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual developmental disorder with polymicrogyria and seizures, MIM# 621021

Created: 12 Jan 2025, 6:03 a.m.
Last Modified: 12 Jan 2025, 6:03 a.m.
Panel version: 0.194

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

previously known as CCT1

8x individuals including 5x de novo
6x PTCs + 2x missense

6/8 DD/ID
2/8 visual impairment
6/8 seizures
6/8 polymicrogyria + 1x Ventriculomegaly, white matter hyperintensities
Sources: Literature
Created: 8 Dec 2024, 9:54 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
neurodevelopmental disorder MONDO:0700092, TCP1-related

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 8 Dec 2024, 9:54 a.m.

Panel version: 0.193

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual developmental disorder with polymicrogyria and seizures, MIM# 621021
OMIM
186980
Clinvar variants
Variants in TCP1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TCP1 were changed from neurodevelopmental disorder MONDO:0700092, TCP1-related to Intellectual developmental disorder with polymicrogyria and seizures, MIM# 621021

8 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: tcp1 has been classified as Green List (High Evidence).

8 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: tcp1 has been classified as Green List (High Evidence).

8 Dec 2024, Gel status: 1

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

Ain Roesley (Victorian Clinical Genetics Services)

gene: TCP1 was added gene: TCP1 was added to Polymicrogyria and Schizencephaly. Sources: Literature 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 neurodevelopmental disorder MONDO:0700092, TCP1-related Penetrance for gene: TCP1 were set to Complete Review for gene: TCP1 was set to GREEN gene: TCP1 was marked as current diagnostic