1. Panels
  2. Fetal anomalies
  3. CLTC
Genes in panel
Prev Next

Fetal anomalies

Gene: CLTC

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

5 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Created: 26 Sep 2024, 11:09 a.m. | Last Modified: 26 Sep 2024, 11:09 a.m.
Panel Version: 4.192
This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.192

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

Green List (high evidence)

Can be associated with non-specific structural brain anomalies inc. thin CC & pontocerebellar hypoplasia. Green
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mental retardation, autosomal dominant 56, MIM# 617854

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35

Arina Puzriakova (Genomics England Curator)

Single publication (PMID:33743358) identified by Suzanne Drury describing a case with reduced fetal movement and growth restriction harbouring a de novo CLTC variant. Postnatal phenotype is compatible with previous reports, however these did not include fetally-relevant phenotypes. Maintaining Amber rating on this panel until further cases arise.
Created: 19 May 2021, 3:04 p.m. | Last Modified: 19 May 2021, 3:04 p.m.
Panel Version: 1.652

Phenotypes
Mental retardation, autosomal dominant 56, OMIM:617854

Publications

Created: 19 May 2021, 3:04 p.m.
Last Modified: 19 May 2021, 3:04 p.m.
Panel version: 1.652

Suzanne Drury (Congenica Ltd)

In PMID 33743358: ultrasound findings of (weeks gestation): NT 3.0 mm (12)Reduced fetal movement (12)FGR (20). Outcome: Birthweight 2.0 kg at 40 weeks with feeding difficulties, weak cry and hypotonia. Mental retardation and developmental delay at 12 months
Created: 8 Apr 2021, 1:23 p.m. | Last Modified: 8 Apr 2021, 1:23 p.m.
Panel Version: 1.637

Publications

Created: 8 Apr 2021, 1:23 p.m.
Last Modified: 8 Apr 2021, 1:23 p.m.
Panel version: 1.637

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for Epilepsy and intellectual disability
Created: 11 Dec 2018, 9:04 a.m.
Created: 11 Dec 2018, 9:04 a.m.

Panel version: 0.9

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Mental retardation, autosomal dominant 56, OMIM:617854
  • Fetal akinesia
  • Fetal growth restriction
OMIM
118955
Clinvar variants
Variants in CLTC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_24_promote_green was removed from gene: CLTC. Tag Q3_24_NHS_review was removed from gene: CLTC.

26 Sep 2024, Gel status: 3

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to CLTC. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

30 Aug 2024, Gel status: 2

Added Tag, Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_24_promote_green tag was added to gene: CLTC. Tag Q3_24_NHS_review tag was added to gene: CLTC.

29 Aug 2024, Gel status: 2

Added New Source, Set mode of inheritance, Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to CLTC. Mode of inheritance for gene CLTC was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CLTC were updated from 33743358 to 33743358; 26822784; 31776469; 34230591; 29100083

19 May 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: CLTC were changed from Epilepsy and intellectual disability to Mental retardation, autosomal dominant 56, OMIM:617854; Fetal akinesia; Fetal growth restriction

7 May 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: CLTC were set to

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: CLTC was added gene: CLTC was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CLTC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CLTC were set to Epilepsy and intellectual disability