1. Panels
  2. Lissencephaly and Band Heterotopia
  3. TUBGCP2
STRs in panel
Prev Next
Regions in panel
Prev Next

Lissencephaly and Band Heterotopia

Gene: TUBGCP2

Green List (high evidence)
TUBGCP2 (tubulin gamma complex associated protein 2)
EnsemblGeneIds (GRCh38): ENSG00000130640
EnsemblGeneIds (GRCh37): ENSG00000130640
TUBGCP2 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Four unrelated families reported.
Sources: Literature
Created: 21 Jan 2020, 3:05 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 21 Jan 2020, 3:05 a.m.

Panel version: 0.11

Details

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

History Filter Activity

26 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tubgcp2 has been classified as Green List (High Evidence).

21 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tubgcp2 has been classified as Green List (High Evidence).

21 Jan 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TUBGCP2 was added gene: TUBGCP2 was added to Lissencephaly and Band Heterotopia. Sources: Literature 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