Congenital myopathy

Gene: CCDC78

Green List (high evidence)

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

5 reviews

Zornitza Stark (Australian Genomics)

I don't know

Segregation in one family reported and a zebrafish model with altered motor function and abnormal muscle ultrastructure. Does not meet criteria for Green rating.
Created: 12 Jun 2020, 10:49 a.m. | Last Modified: 12 Jun 2020, 10:49 a.m.
Panel Version: 2.5

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Myopathy, centronuclear, 4, 614807

Publications

Louise Daugherty (Genomics England Curator)

I don't know

As a result of watchlist tag audit the watchlist tag was removed from CCDC78- this is now a green gene.
Created: 13 Jan 2020, 11:42 a.m. | Last Modified: 13 Jan 2020, 11:42 a.m.
Panel Version: 2.0
Comment on list classification: Upgraded rating from Amber to Green. There is only a single family reported, however Anna Sarkozy (Great Ormond Street Hospital) and Francesco Muntoni (Great Ormond Street Hospital) recommend a Green rating for this gene on R81
Created: 5 Dec 2019, 4:32 p.m. | Last Modified: 5 Dec 2019, 4:35 p.m.
Panel Version: 1.225
Remain Amber unless further evidence supplied by GLH
Created: 3 Dec 2019, 2:58 p.m. | Last Modified: 3 Dec 2019, 2:58 p.m.
Panel Version: 1.198
Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital February 2019 on on behalf of London South GLH for the GMS Neurology specialist test group.
Created: 30 Apr 2019, 10:09 a.m.

Rachael Mein (Viapath at Guy's Hospital)

Green List (high evidence)

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

Phenotypes
Myopathy, centronuclear, 4, 614807

Publications

Variants in this GENE are reported as part of current diagnostic practice

Anna Sarkozy (Great Ormond Street Hospital)

Green List (high evidence)

this can be upgraded to green
Created: 30 May 2019, 4:36 p.m. | Last Modified: 5 Dec 2019, 3:07 p.m.
Panel Version: 1.223

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

Phenotypes
Myopathy, centronuclear, 4, 614807

Publications

Variants in this GENE are reported as part of current diagnostic practice

Helen Brittain (Genomics England Curator)

Red List (low evidence)

Comment on list classification: Expert contacted to see if there are additional cases to the single published to date. Amber and watchlist on current evidence.
Created: 7 Mar 2017, 2:38 p.m.
Comment when marking as ready: One family identified. If further evidence emerges, could be green as phenotype seems to fit.
Created: 3 Feb 2017, 11:44 a.m.
Comment on list classification: Insufficient evidence. One family, although phenotype reported is appropriate.
Created: 3 Feb 2017, 11:42 a.m.
Only one family identified to date (5 affected individuals). Phenotype is consistent with congenital myopathy but currently evidence is insufficient. Mutation in this family is 222bp in-frame insertion.
Created: 30 Jan 2017, 2:29 p.m.

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

Phenotypes
Myopathy, centronuclear, 4 614807

Publications

Mode of pathogenicity
Other

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • London South GLH
  • Expert
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myopathy, centronuclear, 4, 614807
OMIM
614666
Clinvar variants
Variants in CCDC78
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

13 Jan 2020, Gel status: 3

Removed Tag

Louise Daugherty (Genomics England Curator)

Tag watchlist was removed from gene: CCDC78.

5 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: ccdc78 has been classified as Green List (High Evidence).

3 May 2019, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: CCDC78 were set to 22818856; 28012042

3 May 2019, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: CCDC78 were changed from Myopathy, centronuclear, 4, 614807; Hypokalemic periodic paralyisis type 1, 170400; congenital myopathy to Myopathy, centronuclear, 4, 614807

3 May 2019, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: CCDC78 were changed from Myopathy, centronuclear, 4, 614807 to Myopathy, centronuclear, 4, 614807; Hypokalemic periodic paralyisis type 1, 170400; congenital myopathy

3 May 2019, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: CCDC78 were set to 22818856

30 Apr 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to CCDC78.

30 Apr 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source London South GLH was added to CCDC78.

7 Mar 2017, Gel status: 2

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

22 Feb 2017, Gel status: 1

panel promoted to version 1

Helen Brittain (Genomics England Curator)

Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team. Participants who are offered this panel will automatically be offered the following three panels: 1) Congenital muscular dystrophy 2) Congenital myasthenia and 3) Paediatric motor neuronopathy as this will cover a large range of differentials for a weak infant, for where the strict inclusion criteria are not applicable in view of the availability of muscle biopsy testing in peripheral paediatric units.

3 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

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

3 Feb 2017, Gel status: 1

Set publications

Helen Brittain (Genomics England Curator)

Publications for CCDC78 were set to 22818856

3 Feb 2017, Gel status: 1

Set Mode of Inheritance

Helen Brittain (Genomics England Curator)

Mode of inheritance for CCDC78 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

3 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

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

13 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

CCDC78 was added to Congenital myopathypanel. Sources: Expert

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

CCDC78 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen