1. Panels
  2. Fetal anomalies
  3. SPATA5L1
Genes in panel
Prev Next

Fetal anomalies

Gene: SPATA5L1

Amber List (moderate evidence)
SPATA5L1 (spermatogenesis associated 5 like 1)
EnsemblGeneIds (GRCh38): ENSG00000171763
EnsemblGeneIds (GRCh37): ENSG00000171763
SPATA5L1 is in 9 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)

Green List (high evidence)

AKA AFG2B Green on many panels including microcephaly. PMID: 34626583 25 individuals. micropcephaly looks postnatal. Brain MRI diminished cortical volume, periventricular leukomalacia, widened Sylvian fissures, anterior temporal hypoplasia, and hypoplastic corpus callosum were consistent findings but some normal. PMID: 41375745 Single case. Brain MRI showed cortical and white matter atrophy, delayed myelination, and a thin corpus callosum.37902276 signle individual, postnatal micropcephaly, normal brain MRI. ? green for MRI, is hypoplastic CC enough or does it have to be ACC?
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with hearing loss and spasticity, OMIM:619616; neurodevelopmental disorder with hearing loss and spasticity, MONDO:0859206

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
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Neurodevelopmental disorder with hearing loss and spasticity, OMIM:619616
  • neurodevelopmental disorder with hearing loss and spasticity, MONDO:0859206
Clinvar variants
Variants in SPATA5L1
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: SPATA5L1 was added gene: SPATA5L1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: SPATA5L1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPATA5L1 were set to 37902276; 41375745; 34626583 Phenotypes for gene: SPATA5L1 were set to Neurodevelopmental disorder with hearing loss and spasticity, OMIM:619616; neurodevelopmental disorder with hearing loss and spasticity, MONDO:0859206