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  3. ATRIP
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Fetal anomalies

Gene: ATRIP

Amber List (moderate evidence)
ATRIP (ATR interacting protein)
EnsemblGeneIds (GRCh38): ENSG00000164053
EnsemblGeneIds (GRCh37): ENSG00000164053
OMIM: 606605, Gene2Phenotype
ATRIP 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

Sarah Graham (West Midlands Regional Genetics Laboratory, Birmingham Women's and Children’s NHS Foundation Trust)

Green List (high evidence)

Four unrelated probands with microcephaly and dwarfism resembling Seckel syndrome and biallelic ATRIP variants. Red on Australian PanelApp as only one case reported at time of review. NB Monoallelic loss-of-function associated with increased risk of breast cancer.23144622: compound het c.2278C>T (p.Arg760*) plus an unknown variant in trans causing exon 2 skipping in a patient with severe microcephaly, growth delay, micrognathia, dysmorphism. Add Sarah' sother panels.35568357: homozygous c.829+2T>G in one proband with microcephaly and dysmorphism.40029331: two different homozygous splice variants, c.829+2T>G and c.829+5G>T (shown to cause exon 5 skipping), in two unrelated patients with microcephaly, primordial dwarfism, and recurrent infections.
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
Seckel syndrome, MONDO:0019342

Publications

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

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: ATRIP was added gene: ATRIP was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: ATRIP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATRIP were set to 40029331; 35568357; 23144622 Phenotypes for gene: ATRIP were set to Seckel syndrome, MONDO:0019342