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Paediatric disorders - additional genes

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

1 review

Arina Puzriakova (Genomics England Curator)

I don't know

Comment on list classification: Rating Amber as additional evidence, such as additional cases or functional data, is required to corroborate this new gene-disease association. There is also debate on whether OAVS is a monogenic condition which should be taken into account.
Created: 29 Sep 2025, 9:53 a.m. | Last Modified: 29 Sep 2025, 9:53 a.m.
Panel Version: 7.7
PMID: 39333427 (2025) - 8 individuals from 5 families with Oculo-auriculo-vertebral spectrum (OAVS) and heterozygous predicted LOF variants. No functional studies. Cases were selected through Genematcher and Decipher and were sequencing by WES or WGS.

This gene-disease association is not yet represented in other resources such as PanelApp Australia, Gene2Phenotype or OMIM.
Sources: Literature
Created: 29 Sep 2025, 9:51 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Oculo-auriculo-vertebral spectrum

Publications

Created: 29 Sep 2025, 9:51 a.m.

Panel version: 7.6

Details

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

History Filter Activity

29 Sep 2025, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: chaf1a has been classified as Amber List (Moderate Evidence).

29 Sep 2025, Gel status: 1

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 Paediatric disorders - additional genes. Sources: Literature 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 Review for gene: CHAF1A was set to AMBER