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Primary immunodeficiency or monogenic inflammatory bowel disease v9.110 ATRIP Ida Ertmanska gene: ATRIP was added
gene: ATRIP was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature
Q4_26_promote_green tags were added to gene: ATRIP.
Mode of inheritance for gene: ATRIP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATRIP were set to 23144622; 35568357; 40029331
Phenotypes for gene: ATRIP were set to Seckel syndrome, MONDO:0019342; Recurrent infections, HP:0002719
Review for gene: ATRIP was set to GREEN
Added comment: PMID: 40029331 Duthoo et al., 2025
Study identified homozygous splice ATRIP variants in two patients of independent ancestry with microcephaly, primordial dwarfism, and recurrent infections.
Patient F1Pt: female with severe microcephaly, developmental delay, dysmorphic features, growth retardation, grossly normal skeletal development, and a mild ID. She had recurrent respiratory tract infections. Lab investigations showed lymphopenia and intermittent neutropenia. WES revealed a homozygous c.829+5G>T variant in ATRIP. Based on figure S1, severity of microcephaly was close to -6 SD below mean for OFC.
Second patient, F46.1, was previously reported in PMID: 35568357.

PMID: 35568357 Masih et al., 2022
Report of 87 Indian families with microcephaly.
P F46.1 - 5yo male - presented with microcephaly OFC 38cm (Z score − 9.4), moderate ID/DD, febrile seizures, facial dysmorphism, dry skin, recurrent respiratory tract infections, clubbing of digits, short stature, speech delay. CT was normal. He was diagnosed with Seckel syndrome. Proband harboured a homozygous ATRIP variant: c.829+2T>G. Method: exome seq.

PMID: 23144622 Ogi et al., 2012
Report of a patient, born of consanguineous Gujarati-Indian parents, with Seckel syndrome. Proband harboured comp het ATRIP variants: c.2278C-T, p.Arg760Ter and a splicing defect c.248-14A<G. Parents confirmed het for a variant each and unaffected. The patient had severe microcephaly (-10 SD), micrognathia, dental crowding, small earlobes, delayed bone age, and symmetric dwarfism.
Reappraisal of patient CV1720’s clinical status in PMID: 40029331 revealed a phenotype of late-onset lymphopenia and intermittent neutropenia.

ATRIP is not yet associated with a disease entity in OMIM. ClinGen and G2P only list AD associations with breast cancer susceptibility. Resources accessed 27th Oct 2026.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 DUT Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: DUT.
Tag Q4_23_NHS_review was removed from gene: DUT.
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 DUT Sarah Leigh reviewed gene: DUT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v5.2 DUT Achchuthan Shanmugasundram Source NHS GMS was added to DUT.
Source Expert Review Green was added to DUT.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.133 DUT Arina Puzriakova Publications for gene: DUT were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v4.132 DUT Arina Puzriakova Tag Q4_23_promote_green tag was added to gene: DUT.
Tag Q4_23_NHS_review tag was added to gene: DUT.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.132 DUT Arina Puzriakova Classified gene: DUT as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.132 DUT Arina Puzriakova Added comment: Comment on list classification: New gene added by Hannah Knight. Homozygous variants identified in at least 10 individuals from 6 unrelated families (French, Egyptian, two Libyan, Sudanese and Scottish) with bone marrow failure and diabetes. DUT silencing in human and rat pancreatic β-cells results in apoptosis via the intrinsic cell death pathway.

Overall there is sufficient evidence to promote this gene to Green at the next GMS panel update.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.132 DUT Arina Puzriakova Gene: dut has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.131 DUT Arina Puzriakova Phenotypes for gene: DUT were changed from Bone marrow failure and diabetes mellitus syndrome to Bone marrow failure and diabetes mellitus syndrome, OMIM:620044
Primary immunodeficiency or monogenic inflammatory bowel disease v4.125 DUT Hannah Knight gene: DUT was added
gene: DUT was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: DUT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DUT were set to Bone marrow failure and diabetes mellitus syndrome
Review for gene: DUT was set to AMBER
Added comment: PMID: 28073829 (2017) - two unrelated consanguineous families with diabetes and bone marrow aplasia, both homozygous for p.Y142C
PMID: 35611808 (2022) - another family, two affected children with thrombocytopenia, macrocytosis, with or without anemia, followed by non-autoimmune diabetes. Same homozygous missense variant identified as before
PMID: 35931051 (2022) - identified probands who came from two independent families, had bi-allelic DUT variants, and presented with severe pancytopenia and mucocutaneous skin features. Information in supplementary materials. One patient homozygous for p.Tyr142Cys and the other compound het for p.Arg173Trp and p.Tyr227Cys
Sources: Literature