Genes in panel
Regions in panel
Prev Next

Intellectual disability

Gene: TUBGCP2

No list

TUBGCP2 (tubulin gamma complex associated protein 2)
EnsemblGeneIds (GRCh38): ENSG00000130640
EnsemblGeneIds (GRCh37): ENSG00000130640
TUBGCP2 is in 1 panel

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Four unrelated families reported.
Sources: Expert list
Created: 2 Mar 2020, 4:25 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lissencephaly; pachygyria; subcortical band heterotopia; microcephaly; intellectual disability

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Lissencephaly
  • pachygyria
  • subcortical band heterotopia
  • microcephaly
  • intellectual disability
Clinvar variants
Variants in TUBGCP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Mar 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: TUBGCP2 was added gene: TUBGCP2 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: TUBGCP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TUBGCP2 were set to 31630790 Phenotypes for gene: TUBGCP2 were set to Lissencephaly; pachygyria; subcortical band heterotopia; microcephaly; intellectual disability Review for gene: TUBGCP2 was set to GREEN gene: TUBGCP2 was marked as current diagnostic