Respiratory ciliopathies including non-CF bronchiectasis
Gene: EFCAB1EnsemblGeneIds (GRCh38): ENSG00000034239
EnsemblGeneIds (GRCh37): ENSG00000034239
EFCAB1 is in 2 panels
2 reviews
Eleanor Williams (Genomics England Curator)
The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.Created: 11 Dec 2025, 4:33 p.m. | Last Modified: 11 Dec 2025, 4:33 p.m.
Panel Version: 4.50
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on list classification: There is sufficient evidence available (three unrelated cases and some experimental evidence) for the promotion of this gene to green rating in the next GMS update.Created: 4 Jul 2025, 1:01 p.m. | Last Modified: 4 Jul 2025, 1:01 p.m.
Panel Version: 4.10
The 'new-gene-name' tag has been added as the official HGNC gene symbol for EFCAB1 is CLXN.Created: 4 Jul 2025, 1 p.m. | Last Modified: 4 Jul 2025, 1 p.m.
Panel Version: 4.9
The ClinGen Motile Ciliopathy expert panel has classified the association of EFCAB1 gene to ciliary dyskinesia, primary, 53 (MONDO:0957991) as 'Strong'. More information can be found in https://search.clinicalgenome.org/CCID:008800.
PMID:36727596 - Three individuals from three unrelated families were identified with three different homozygous variants in EFCAB1 gene (p.Arg98Ter, p.Glu123Ter & p.Glu40Trpfs*16). All three patients presented with situs inversus/ situs ambiguous, while chronic rhino-sinusitis was reported in one, and recurrent pneumonia and respiratory insufficiency were reported in another patient. There is also some functional evidence available.
This gene has also been associated with relevant phenotype in OMIM (MIM #620642).
Sources: LiteratureCreated: 4 Jul 2025, 12:59 p.m. | Last Modified: 17 Jul 2025, 1:53 p.m.
Panel Version: 4.41
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary, 53, OMIM:620642
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Literature
- Phenotypes
-
- Ciliary dyskinesia, primary, 53, OMIM:620642
- Tags
- Clinvar variants
- Variants in EFCAB1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag gene-checked tag was added to gene: EFCAB1.
Removed Tag
Eleanor Williams (Genomics England Curator)Tag Q2_25_ promote_green was removed from gene: EFCAB1.
Added New Source, Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to EFCAB1. Source Expert Review Green was added to EFCAB1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: efcab1 has been classified as Amber List (Moderate Evidence).
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q2_25_ promote_green tag was added to gene: EFCAB1.
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag new-gene-name tag was added to gene: EFCAB1.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)gene: EFCAB1 was added gene: EFCAB1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Literature Mode of inheritance for gene: EFCAB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EFCAB1 were set to 36727596 Phenotypes for gene: EFCAB1 were set to Ciliary dyskinesia, primary, 53, OMIM:620642 Review for gene: EFCAB1 was set to GREEN