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  3. EFCAB1
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Ciliary Dyskinesia

Gene: EFCAB1

Green List (high evidence)
EFCAB1 (EF-hand calcium binding domain 1)
EnsemblGeneIds (GRCh38): ENSG00000034239
EnsemblGeneIds (GRCh37): ENSG00000034239
EFCAB1 is in 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

HGNC approved name is CLXN
Created: 4 Dec 2023, 3:25 a.m. | Last Modified: 4 Dec 2023, 3:25 a.m.
Panel Version: 1.36

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 53, MIM# 620642

Created: 4 Dec 2023, 3:25 a.m.
Last Modified: 4 Dec 2023, 3:25 a.m.
Panel version: 1.36

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

WES in 3 individuals with laterality defects and respiratory symptoms, identified homozygous pathogenic variants in CLXN (EFCAB1). They found Clxn expressed in mice left-right organizer. Transmission electron microscopy depicted outer dynein arm (ODA) defects in distal ciliary axonemes. Immunofluorescence microscopy revealed absence of CLXN from the ciliary axonemes, absence of the ODA components DNAH5, DNAI1 and DNAI2 from the distal axonemes, as well as mislocalization or absence of DNAH9. Additionally, CLXN is undetectable in ciliary axonemes of individuals with defects in the outer dynein arm docking (ODA-DC) machinery: ODAD1, ODAD2, ODAD3 and ODAD4. Moreover, SMED-EFCAB1-deficient planaria displayed ciliary dysmotility.
Sources: Literature
Created: 3 Feb 2023, 5:49 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Primary ciliary dyskinesia and heterotaxy, no OMIM #

Publications

Created: 3 Feb 2023, 5:49 a.m.

Panel version: 1.26

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ciliary dyskinesia, primary, 53, MIM# 620642
Tags
new gene name
Clinvar variants
Variants in EFCAB1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Dec 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: EFCAB1 were changed from Primary ciliary dyskinesia, MONDO:0016575, EFCAB1-related to Ciliary dyskinesia, primary, 53, MIM# 620642

4 Dec 2023, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag new gene name tag was added to gene: EFCAB1.

18 Feb 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: efcab1 has been classified as Green List (High Evidence).

18 Feb 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: EFCAB1 were changed from Primary ciliary dyskinesia and heterotaxy, no OMIM # to Primary ciliary dyskinesia, MONDO:0016575, EFCAB1-related

3 Feb 2023, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: efcab1 has been classified as Green List (High Evidence).

3 Feb 2023, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: efcab1 has been classified as Green List (High Evidence).

3 Feb 2023, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: EFCAB1 was added gene: EFCAB1 was added to Ciliary Dyskinesia. Sources: Literature Mode of inheritance for gene: EFCAB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EFCAB1 were set to PMID: 36727596 Phenotypes for gene: EFCAB1 were set to Primary ciliary dyskinesia and heterotaxy, no OMIM # Review for gene: EFCAB1 was set to GREEN