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  3. CLTC
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Fetal anomalies

Gene: CLTC

Green List (high evidence)
CLTC (clathrin heavy chain)
EnsemblGeneIds (GRCh38): ENSG00000141367
EnsemblGeneIds (GRCh37): ENSG00000141367
OMIM: 118955, Gene2Phenotype
CLTC is in 6 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PMID 34230591: review of previously reported cases and report of 3 new cases, including one with prenatally ascertained brain and renal abnormalities.
Created: 31 Dec 2021, 4:16 a.m. | Last Modified: 31 Dec 2021, 4:16 a.m.
Panel Version: 0.1700
More than 10 unrelated individuals with de novo variants in this gene reported. Individuals with refractory epilepsy were found to carry variants in the first section of the clathrin light chain-binding domain, whereas truncating mutations affecting the C terminus tended to be associated with hypotonia, global developmental delay, and intellectual disability.

Hydrocephalus in one individual. Microcephaly is acquired.
Created: 3 Sep 2020, 11:02 a.m. | Last Modified: 14 Dec 2021, 4:01 a.m.
Panel Version: 0.1350

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mental retardation, autosomal dominant 56, MIM# 617854

Publications

Created: 3 Sep 2020, 11:02 a.m.
Last Modified: 14 Dec 2021, 4:01 a.m.
Panel version: 0.1700

Ain Roesley (Victorian Clinical Genetics Services)

I don't know

PMID: 31776469
Review of literature with a total of 27 probands listed.
4 patients with acquired microcephaly (no measurements provided).
Created: 2 Sep 2020, 7:26 a.m. | Last Modified: 2 Sep 2020, 7:26 a.m.
Panel Version: 0.327

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

Phenotypes
Mental retardation, autosomal dominant 56 (MIM#617854)

Publications

Created: 2 Sep 2020, 7:26 a.m.
Last Modified: 2 Sep 2020, 7:26 a.m.
Panel version: Imported from Microcephaly panel version 0.327

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Mental retardation, autosomal dominant 56, MIM# 617854
OMIM
118955
Clinvar variants
Variants in CLTC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

31 Dec 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CLTC were changed from Fetal growth restriction; Mental retardation, autosomal dominant 56, OMIM:617854; Fetal akinesia to Mental retardation, autosomal dominant 56, MIM# 617854

31 Dec 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CLTC were set to 33743358

31 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

14 Dec 2021, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CLTC was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

14 Dec 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cltc has been classified as Red List (Low Evidence).

24 Oct 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CLTC was added gene: CLTC was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: CLTC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CLTC were set to 33743358 Phenotypes for gene: CLTC were set to Fetal growth restriction; Mental retardation, autosomal dominant 56, OMIM:617854; Fetal akinesia