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  2. Muscular dystrophy and myopathy_Paediatric
  3. CCDC78
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Muscular dystrophy and myopathy_Paediatric

Gene: CCDC78

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

3 reviews

Sangavi Sivagnanasundram (Melbourne Health)

I don't know

PMID: 22818856
5 individuals in the same family with features of myopathy
(Hypotonia, excessive fatigue, prominent myalgias)
Mutations in this gene are not common for congenital myopathy.
Sources: Other
Created: 8 May 2023, 1:34 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Centronuclear Myopathy (MIM#614807; MONDO: 0018947)

Publications

Created: 8 May 2023, 1:34 a.m.

Panel version: 0.128

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Segregation in one family reported and a zebrafish model with altered motor function and abnormal muscle ultrastructure.
Sources: Expert list
Created: 26 Feb 2020, 4:18 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Centronuclear myopathy 4 MIM#614807

Publications

Created: 26 Feb 2020, 4:18 a.m.

Panel version: Imported from Myopathy - paediatric onset panel version 0.96

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Single family reported in the literature only. Mild intellectual disability was part of the phenotype.
Created: 25 Nov 2019, 7:23 a.m. | Last Modified: 25 Nov 2019, 7:23 a.m.
Panel Version: 0.0

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Centronuclear myopathy 4, MIM#614807

Publications

Created: 25 Nov 2019, 7:23 a.m.
Last Modified: 25 Nov 2019, 7:23 a.m.
Panel version: Imported from Myopathy - paediatric onset panel version Imported from Myopathy panel version 0.0

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert Review Amber
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Centronuclear Myopathy (MIM#614807
  • MONDO: 0018947)
OMIM
614666
Clinvar variants
Variants in CCDC78
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 May 2023, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ccdc78 has been classified as Amber List (Moderate Evidence).

9 May 2023, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ccdc78 has been classified as Amber List (Moderate Evidence).

8 May 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Sangavi Sivagnanasundram (Melbourne Health)

gene: CCDC78 was added gene: CCDC78 was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: CCDC78 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CCDC78 were set to 22818856 Phenotypes for gene: CCDC78 were set to Centronuclear Myopathy (MIM#614807; MONDO: 0018947) Review for gene: CCDC78 was set to AMBER