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Intellectual disability

Gene: CCDC78

Red List (low evidence)

CCDC78 (coiled-coil domain containing 78)
EnsemblGeneIds (GRCh38): ENSG00000162004
EnsemblGeneIds (GRCh37): ENSG00000162004
OMIM: 614666, Gene2Phenotype
CCDC78 is in 6 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Associated with phenotype in OMIM and as a probable G2P. At least 1 variant reported in one family in which 4/5 children carrying the variant had mild cognitive impairment in addition to the other phenotypic characteristics of centronuclear myopathy 4 (OMIM 614807)
Created: 15 Dec 2017, 9:38 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

Caroline Wright (Sanger)

Red List (low evidence)

Phenotypes
CONGENITAL MYOPATHY WITH PROMINENT INTERNAL NUCLEI AND ATYPICAL CORES

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?Centronuclear myopathy 4 614807
OMIM
614666
Clinvar variants
Variants in CCDC78
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 1

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.

5 Jan 2018, Gel status: 1

Set mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene CCDC78 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene CCDC78 was set to ['26503795', ' 24896178', ' 22818856 ']

13 Nov 2015, Gel status: 1

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: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CCDC78 was added to Intellectual disabilitypanel. Source: Expert Review Red

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CCDC78 was added to Intellectual disabilitypanel. Sources: Radboud University Medical Center, Nijmegen