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DDG2P

Gene: CLTC

Green List (high evidence)
CLTC (clathrin heavy chain)
EnsemblGeneIds (GRCh38): ENSG00000141367
EnsemblGeneIds (GRCh37): ENSG00000141367
OMIM: 118955, Gene2Phenotype
CLTC is in 4 panels

4 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease Epilepsy and intellectual disability is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 26822784;29100083).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

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

Phenotypes
Epilepsy and intellectual disability

Publications

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 3.12

Eleanor Williams (Genomics England Curator)

This gene is already green on both the Intellectual disability (panel ID 285) and Genetic epilepsy syndromes (panel ID 402) panels. The DDG2P panel will be updated as a whole to be in line with the DD panel from Gene2Phenotype.
Created: 2 Aug 2022, 11:22 p.m. | Last Modified: 2 Aug 2022, 11:22 p.m.
Panel Version: 2.76
Created: 2 Aug 2022, 11:22 p.m.
Last Modified: 2 Aug 2022, 11:22 p.m.
Panel version: 2.76

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

Paper reports 12 unrelated patients with de novo variants in CLTC with intellectual disability and epileptic encephalopathy.
Created: 18 Jul 2022, 4:21 p.m. | Last Modified: 18 Jul 2022, 4:21 p.m.
Panel Version: 2.76

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Developmental & epileptic encephalopathies

Publications

Created: 18 Jul 2022, 4:21 p.m.
Last Modified: 18 Jul 2022, 4:21 p.m.
Panel version: 2.76

Rebecca Foulger (Genomics England curator)

I don't know

Multiple DD-Gene2Phenotype ratings (probable; possible). Kept rating as Amber to reflect highest DD-G2P Disease confidence: probable for Epilepsy and intellectual disability.
Created: 28 Jan 2019, 2:29 p.m.
Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations.
Created: 19 Nov 2018, 1:43 p.m.
Multiple ratings in DD-G2P download: Rated possible for Overgrowth intellectual disability and rated probable for Epilepsy and intellectual disability.
Created: 19 Nov 2018, 11:29 a.m.
Created: 19 Nov 2018, 11:29 a.m.

Panel version: 0.55

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • Overgrowth intellectual disability
  • Epilepsy and intellectual disability
OMIM
118955
Clinvar variants
Variants in CLTC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Oct 2023, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag watchlist was removed from gene: CLTC.

4 Oct 2023, Gel status: 3

Added New Source, Set publications, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to CLTC. Publications for gene: CLTC were updated from 29100083 to 26822784; 29100083 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

29 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Multiple ratings in DD-G2P dow

19 Nov 2018, Gel status: 2

Added Tag

Rebecca Foulger (Genomics England curator)

Tag watchlist tag was added to gene: CLTC.

19 Nov 2018, Gel status: 2

Set Phenotypes, Set publications

Rebecca Foulger (Genomics England curator)

Added phenotypes Epilepsy and intellectual disability for gene: CLTC Publications for gene CLTC were changed from 26822784 to 29100083

19 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: CLTC was added gene: CLTC was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CLTC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CLTC were set to 26822784 Phenotypes for gene: CLTC were set to Overgrowth intellectual disability