Severe microcephaly

Gene: TUBGCP6

Green List (high evidence)

TUBGCP6 (tubulin gamma complex associated protein 6)
EnsemblGeneIds (GRCh38): ENSG00000128159
EnsemblGeneIds (GRCh37): ENSG00000128159
OMIM: 610053, Gene2Phenotype
TUBGCP6 is in 4 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Created: 29 Jul 2019, 4:18 p.m. | Last Modified: 29 Jul 2019, 4:18 p.m.
Panel Version: 1.62

Alice Gardham (Genomics England)

Green List (high evidence)

Recognised on G2P. Listed on genereviews as a differential of primary AR microcephaly
Created: 12 Jan 2017, 9:51 a.m.

Phenotypes
Microcephaly and chorioretinopathy, autosomal recessive, 1 251270

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Other
  • Expert list
Phenotypes
  • MCPH
  • primary microcephaly
  • Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270
  • MCCRP1
  • Microcephaly and chorioretinopathy with or without mental retardation, 251270
OMIM
610053
Clinvar variants
Variants in TUBGCP6
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to TUBGCP6.

26 Oct 2017, Gel status: 4

Set publications

Rebecca Foulger (Genomics England curator)

Publications for TUBGCP6 were set to 25344692; 22279524

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

Set publications

Alice Gardham (Genomics England)

Publications for TUBGCP6 were set to 25344692

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: 2

Added New Source

Rebecca Foulger (Genomics England curator)

TUBGCP6 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: UKGTN

13 Dec 2016, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

TUBGCP6 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Radboud University Medical Center, Nijmegen

13 Dec 2016, Gel status: 0

Set Mode of Inheritance, Added New Source

Rebecca Foulger (Genomics England curator)

TUBGCP6 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Other Model of inheritance for gene TUBGCP6 was set to BIALLELIC, autosomal or pseudoautosomal

13 Dec 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

TUBGCP6 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Expert list

13 Dec 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

TUBGCP6 was created by rfoulger