Polymicrogyria and Schizencephaly
Gene: TCP1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Intellectual developmental disorder with polymicrogyria and seizures, MIM# 621021
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: LiteratureCreated: 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
Phenotypes for gene: TCP1 were changed from neurodevelopmental disorder MONDO:0700092, TCP1-related to Intellectual developmental disorder with polymicrogyria and seizures, MIM# 621021
Gene: tcp1 has been classified as Green List (High Evidence).
Gene: tcp1 has been classified as Green List (High Evidence).
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