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Fetal anomalies

Gene: KAT7

Red List (low evidence)
KAT7 (lysine acetyltransferase 7)
EnsemblGeneIds (GRCh38): ENSG00000136504
EnsemblGeneIds (GRCh37): ENSG00000136504
OMIM: 609880, Gene2Phenotype
KAT7 is in 1 panel

2 reviews

Arina Puzriakova (Genomics England Curator)

Red List (low evidence)

New gene added to this panel with a Red 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

Natalie Chandler (North Thames GLH)

Red List (low evidence)

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
Not in omim, on panel app, nothing on pubmed search. PMID 40186013 de novo missense variant in fetus with tetralogy of fallot, abnormal male external genitalia, SUA, microcronea, and dymorphic features (low et ears, hypertelorism, sloping forehead, short philtrum). Classified as VUS due o lack of gene/phenotype link. No results on genematcher. A few other papers on HGMD but all big studies with limited phenotype info. Red/Amber
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
Abnormal male external genitalia morphology; Tetralogy of Fallot

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 Red
Phenotypes
  • Abnormal male external genitalia morphology
  • Tetralogy of Fallot
OMIM
609880
Clinvar variants
Variants in KAT7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Sep 2025, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

gene: KAT7 was added gene: KAT7 was added to Fetal anomalies. Sources: Expert Review Red Mode of inheritance for gene: KAT7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KAT7 were set to 40186013 Phenotypes for gene: KAT7 were set to Abnormal male external genitalia morphology; Tetralogy of Fallot