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Fetal anomalies

Gene: BNIP1

Amber List (moderate evidence)
BNIP1 (BCL2 interacting protein 1)
EnsemblGeneIds (GRCh38): ENSG00000113734
EnsemblGeneIds (GRCh37): ENSG00000113734
OMIM: 603291, Gene2Phenotype
BNIP1 is in 1 panel

2 reviews

Arina Puzriakova (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.148

Beth Young (West Midlands Regional Genetics Laboratory)

I don't know

Not on any UK PanelApp panels, Amber on Australian Skeletal dysplasia panel. The Holling type of spondyloepiphyseal dysplasia (SEDH) is an autosomal recessive disorder characterized by disproportionate short stature and abnormalities of both the axial and appendicular skeleton. May be detected prenatally. Holling et al. 2022; identified homozygous c.84+3A>T in 2 unrelated patients (though shared homozygosity suggests remote consanguinity). Showed abberant splicing leads to reduced protein level in patient fibroblasts. Jacob et al. 2025 screened 248 affected individuals from Indian cohort. Also reported 2 families with c.84+3A> T variant, but appears to be same families previously reported by Holling et al. Insufficient evidence to currently add to panel.
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spondyloepiphyseal dysplasia, Holling type, OMIM:621345

Publications

  • 3,526,622,739,706,860

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Spondyloepiphyseal dysplasia, Holling type, OMIM:621345
OMIM
603291
Clinvar variants
Variants in BNIP1
Penetrance
None
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Spondyloepiphyseal dysplasia, Holling type, OMIM:621345 for gene: BNIP1

9 Mar 2026, Gel status: 2

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: BNIP1 was added gene: BNIP1 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: BNIP1 was set to BIALLELIC, autosomal or pseudoautosomal