Severe microcephaly

Gene: TUBGCP4

Green List (high evidence)

TUBGCP4 (tubulin gamma complex associated protein 4)
EnsemblGeneIds (GRCh38): ENSG00000137822
EnsemblGeneIds (GRCh37): ENSG00000137822
OMIM: 609610, Gene2Phenotype
TUBGCP4 is in 6 panels

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

Mutations in at least three families. Zebrafish model. Probable DD on G2P
Created: 12 Jan 2017, 9:57 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly and chorioretinopathy, autosomal recessive, 3 616335

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Other
Phenotypes
  • Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335
OMIM
609610
Clinvar variants
Variants in TUBGCP4
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

2 Mar 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

2nd March 2017: Panel review was assessed and panel was revised according to expert review and additional curation. This panel began with an expert gene list from Professor Andrew Jackson (University of Edinburgh) for primary microcephaly (MCPH) and microcephalic primordial dwarfism (MPD). Other disorders are included where microcephaly is a primary feature. Disorders where microcephaly is not the primary presenting feature are not included (e.g. congenital disorders of glycosylation, Proud syndrome, Norrie disease). The panel does not include disorders with a cortical malformation (e.g. lissencephaly) since the Malformations of cortical development' panel would be applied to these patients.

12 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

12 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

12 Jan 2017, Gel status: 4

Set publications

Alice Gardham (Genomics England)

Publications for TUBGCP4 were set to 25817018

12 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

13 Dec 2016, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

TUBGCP4 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Radboud University Medical Center, Nijmegen

13 Dec 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

TUBGCP4 was created by rfoulger

13 Dec 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

TUBGCP4 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Other