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Fetal anomalies

Gene: CFAP57

Red List (low evidence)

CFAP57 (cilia and flagella associated protein 57)
EnsemblGeneIds (GRCh38): ENSG00000243710
EnsemblGeneIds (GRCh37): ENSG00000243710
OMIM: 614259, Gene2Phenotype
CFAP57 is in 3 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

Red List (low evidence)

Homozygous nonsense variants identified in a 38-year-old male with PCD phenotype (history of neonatal respiratory distress, otitis media, sinusitis and bronchiectasis)

x1 Het VUS reported in an individual with van der Woude syndrome - reviewed ClinVar - remains classified as VUS
Sources: Literature
Created: 5 Dec 2021, 11:50 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Van der Woude syndrome; primary ciliary dyskinesia like

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Van der Woude syndrome
  • primary ciliary dyskinesia like
OMIM
614259
Clinvar variants
Variants in CFAP57
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Dec 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cfap57 has been classified as Red List (Low Evidence).

6 Dec 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cfap57 has been classified as Red List (Low Evidence).

5 Dec 2021, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: CFAP57 was added gene: CFAP57 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: CFAP57 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CFAP57 were set to 21574244; 32764743 Phenotypes for gene: CFAP57 were set to Van der Woude syndrome; primary ciliary dyskinesia like Review for gene: CFAP57 was set to RED