Genes in panel
Regions in panel
Prev Next

Intellectual disability

Gene: C12orf57

Green List (high evidence)

C12orf57 (chromosome 12 open reading frame 57)
EnsemblGeneIds (GRCh38): ENSG00000111678
EnsemblGeneIds (GRCh37): ENSG00000111678
OMIM: 615140, Gene2Phenotype
C12orf57 is in 7 panels

2 reviews

Caroline Wright (Sanger)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
TEMTAMY SYNDROME; COLOBOMA, HYPOPLASTIC CORPUS CALLOSUM AND INTELLECTUAL DISABILITY

Publications

Lu Raymond (university of cambridge )

Green List (high evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Temtamy syndrome, 218340
  • TEMTAMY SYNDROME
  • COLOBOMA, HYPOPLASTIC CORPUS CALLOSUM AND INTELLECTUAL DISABILITY
OMIM
615140
Clinvar variants
Variants in C12orf57
Penetrance
Complete
Panels with this gene

History Filter Activity

28 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to C12orf57.

12 Mar 2018, Gel status: 3

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.

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 1

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

C12orf57 was added to Intellectual disabilitypanel. Source: Expert Review Green Model of inheritance for gene C12orf57 was set to BIALLELIC, autosomal or pseudoautosomal

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

C12orf57 was added to Intellectual disabilitypanel. Sources: Radboud University Medical Center, Nijmegen