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  3. ATXN7L3
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Fetal anomalies

Gene: ATXN7L3

Amber List (moderate evidence)
ATXN7L3 (ataxin 7 like 3)
EnsemblGeneIds (GRCh38): ENSG00000087152
EnsemblGeneIds (GRCh37): ENSG00000087152
ATXN7L3 is in 3 panels

2 reviews

Ida Ertmanska (Genomics England Curator)

This gene and phenotype were reviewed during meetings in July and August 2026. The meetings included representatives of the North Thames and Central and South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Louise Carr (North Thames GLH), Sarah Graham & Elizabeth Young (Central & South GLH), and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Sunayna Best, Soo-Mi Park & Tessa Homfray (R21 Clinical Oversight Group).
Created: 29 Oct 2026, 4:13 p.m. | Last Modified: 29 Oct 2026, 4:13 p.m.
Panel Version: 8.26
Created: 29 Oct 2026, 4:13 p.m.
Last Modified: 29 Oct 2026, 4:13 p.m.
Panel version: 8.26

Natalie Chandler (North Thames GLH)

I don't know

Green in ID & DDG2P panel UK. PMID 38753057 reports five monoallelic ATXN7L3 variants in nine unrelated cases. The variants were de novo, where this could be established (8/9 cases). 2/9 microcephaly only one with birth and -2/32 SD, 1/9 macrocephaly. Brain MRI 2/9 periventricular leukomalacia; 1xdelayed myelination; 1x cystic lesion lateral ventricle; 1xvermis atrophy, asymmetic ventricle enlargement. Facial dysmorphism 4/9 hypertelorism; low ears; small mouth. Keep watch.
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Harel-Tora neurodevelopmental syndrome, OMIM:621377; Harel-Tora neurodevelopmental syndrome, MONDO:0980703

Publications

Created: 29 Oct 2026, 3:51 p.m.
Last Modified: 29 Oct 2026, 3:51 p.m.
Panel version: 8.25

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Harel-Tora neurodevelopmental syndrome, OMIM:621377
  • Harel-Tora neurodevelopmental syndrome, MONDO:0980703
Clinvar variants
Variants in ATXN7L3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2026, Gel status: 2

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

Ida Ertmanska (Genomics England Curator)

gene: ATXN7L3 was added gene: ATXN7L3 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: ATXN7L3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATXN7L3 were set to 38753057 Phenotypes for gene: ATXN7L3 were set to Harel-Tora neurodevelopmental syndrome, OMIM:621377; Harel-Tora neurodevelopmental syndrome, MONDO:0980703