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  3. CHAF1A
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Fetal anomalies

Gene: CHAF1A

Amber List (moderate evidence)
CHAF1A (chromatin assembly factor 1 subunit A)
EnsemblGeneIds (GRCh38): ENSG00000167670
EnsemblGeneIds (GRCh37): ENSG00000167670
OMIM: 601246, Gene2Phenotype
CHAF1A is in 2 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

I don't know

New gene added to this panel with an Amber rating, inline with the recent review by the R21 Clinical Oversight Group.
Created: 5 Sep 2025, 4:41 p.m. | Last Modified: 5 Sep 2025, 4:41 p.m.
Panel Version: 6.29
Created: 5 Sep 2025, 4:41 p.m.
Last Modified: 5 Sep 2025, 4:41 p.m.
Panel version: 6.29

Elizabeth Wall (Birmingham Women's and Children's Hospital)

I don't know

This gene and phenotype were reviewed during meetings in June & July 2025. 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 & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Created: 5 Sep 2025, 4:31 p.m. | Last Modified: 5 Sep 2025, 4:31 p.m.
Panel Version: 6.28
Gene: component of the histone chaperone complex chromatin assembly factor 1, intolerant to loss of function (PLI 1). Gene-disease: One paper reports 8 individuals in 5 families with OAVS spectrum. Presumbed LOF variants. No functional studies. Not in any other panels yet
Created: 5 Sep 2025, 2:55 p.m. | Last Modified: 5 Sep 2025, 2:55 p.m.
Panel Version: 6.24

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Oculo-auriculo-vertebral spectrum

Publications

Created: 5 Sep 2025, 2:55 p.m.
Last Modified: 5 Sep 2025, 2:55 p.m.
Panel version: 6.28

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Oculo-auriculo-vertebral spectrum
OMIM
601246
Clinvar variants
Variants in CHAF1A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Sep 2025, Gel status: 2

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

Arina Puzriakova (Genomics England Curator)

gene: CHAF1A was added gene: CHAF1A was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: CHAF1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CHAF1A were set to 39333427 Phenotypes for gene: CHAF1A were set to Oculo-auriculo-vertebral spectrum