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  3. QSER1
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Fetal anomalies

Gene: QSER1

Amber List (moderate evidence)
QSER1 (glutamine and serine rich 1)
EnsemblGeneIds (GRCh38): ENSG00000060749
EnsemblGeneIds (GRCh37): ENSG00000060749
QSER1 is in 1 panel

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

Soo-Mi Park (CUHNFT)

Green List (high evidence)

Not a Morbid gene or G2P gene. Not on PanelApp. PMID: 41139957 reports 3 unrelated individuals with LoF QSER1 variants Patient 1 was also found to be hemizygous for a missense varaint in FRMPD4 with global dev delay, ID, ADHD, Axenfeld-Rieger anomaly, coneshaped teeth, hypospadias, inguinal hernia, and bilateral 23 syndactyly of the toes. Patient 2 has unilateral congenital sensorineural hearing loss, unilateral spastic hemiparesis and other pyramidal features, ventricular septal defect, and ocular anomalies, borderline microcephaly (4th C). Brain MRI features include unilateral hypoplasia of the cochlear nerve, stable enlarged right aqueduct, and mild asymmetric dilation of the right vestibule. Patient 3 has congenital heart defect (large atrial septal defect secundum, PDA, and dysplastic pulmonary valve based on ultrasound), preaxial polydactyly of the right thumb with duplication of both phalanges on the right hand, bilateral inguinal hernia, undescended testes, limb hypertonia with brisk tendon reflexes, decreased eye contact, and significant developmental delay. Brain MRI showed changes consistent with periventricular leukomalacia. @ out of 3were also born prematurely (24-25 weeks) due to maternal preeclampsia. Zebrefish model demonstrated strong expression indeveloping brain and eyes. other published de novo variants in QSER1 in large autism/developmental disorder cohorts without further phenotypic details.
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
neurodevelopmental disorder, MONDO:0700092

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
  • neurodevelopmental disorder, MONDO:0700092
Clinvar variants
Variants in QSER1
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: QSER1 was added gene: QSER1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: QSER1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: QSER1 were set to 41139957 Phenotypes for gene: QSER1 were set to neurodevelopmental disorder, MONDO:0700092