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Intellectual disability

Gene: TUBGCP4

Amber List (moderate evidence)

TUBGCP4 (tubulin gamma complex associated protein 4)
EnsemblGeneIds (GRCh38): ENSG00000137822
EnsemblGeneIds (GRCh37): ENSG00000137822
OMIM: 609610, Gene2Phenotype
TUBGCP4 is in 8 panels

4 reviews

Caroline Wright (Sanger)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
AUTOSOMAL-RECESSIVE MICROCEPHALY WITH CHORIORETINOPATHY.

Publications

Rebecca Foulger (Genomics England curator)

I don't know

Scheidecker et al. (2015, PMID:25817018) reported 4 children from 3 unrelated French families with congenital microcephaly and chorioretinal dysplasia (MIM:616335). Most patients had mildly delayed development and mild learning difficulties. Compound heterozygous TUBGCP4 variants were found in all affected patients: a synonymous variant common to all 3 families (c.1746 G>T) was shown to induce exon skipping; the other mutations were frameshift mutations and a deletion. Rated Amber after clinical agreement from Helen Brittain, as ID component is variable between families.
Created: 31 Oct 2017, 9:24 a.m.

Phenotypes
Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335; mildly delayed development

Lu Raymond (university of cambridge )

I don't know

Richard Scott (Genomics England Curator)

Comment on list classification: Two families reported to date. Further data required before diagnostic
Created: 8 Feb 2016, 1:54 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review Red
Phenotypes
  • Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335
  • mildly delayed development
OMIM
609610
Clinvar variants
Variants in TUBGCP4
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 2

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

29 Nov 2017, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

Expert Review Amber was added to TUBGCP4. Panel: Intellectual disability

8 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

8 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

TUBGCP4 was added to Intellectual disabilitypanel. Sources: Expert Review Amber

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

TUBGCP4 was created by ellenmcdonagh