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  3. NUBP2
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Fetal anomalies

Gene: NUBP2

Amber List (moderate evidence)
NUBP2 (nucleotide binding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000095906
EnsemblGeneIds (GRCh37): ENSG00000095906
OMIM: 610779, Gene2Phenotype
NUBP2 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

Vicki Harrison (Wessex Clinical Genetics Service)

Green List (high evidence)

not on panelapp. 2 confirmed affected from two unrelated consanguineous families. Severe IUGR < 3rd centile, severe microcepaphaly but uncertain of size at birth. Other features of kyphosis and contractures. Supporting mouse and functional data.
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, 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
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
OMIM
610779
Clinvar variants
Variants in NUBP2
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: NUBP2 was added gene: NUBP2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: NUBP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUBP2 were set to 39867373 Phenotypes for gene: NUBP2 were set to neurodevelopmental disorder, MONDO:0700092