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| Skeletal dysplasia v10.26 | ATRIP |
Ida Ertmanska changed review comment from: 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 (final height of 133 cm at age 22 yrs), grossly normal skeletal development (skeletal radiography revealed osteoporotic changes in the bones, delayed bone age, and the presence of 11 pairs of ribs, without other unusual skeletal developmental issues), 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 Sources: Literature; to: 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 (final height of 133 cm at age 22 yrs), grossly normal skeletal development (skeletal radiography revealed osteoporotic changes in the bones, delayed bone age, and the presence of 11 pairs of ribs, without other unusual skeletal developmental issues), 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. |
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| Skeletal dysplasia v10.26 | ATRIP | Ida Ertmanska changed review comment from: There are now 3 unrelated probands reported in literature with homozygous variants in ATRIP and severe microcephaly consistent with Seckel syndrome. Skeletal anomalies have been reported: symmertic dwarfism (1/3), delayed bone age (2/3), short stature (2/3), 11 pairs of ribs (1/3), and club foot (1/3). Based on the variable and, in 2 cases, mild skeletal features, this gene can only be rated Amber on Skeletal dysplasia.; to: There are now 3 unrelated probands reported in literature with homozygous variants in ATRIP and severe microcephaly consistent with Seckel syndrome. Skeletal anomalies have been reported: symmertic dwarfism (1/3), delayed bone age (2/3), short stature (2/3), 11 pairs of ribs (1/3), and club foot (1/3). Based on the variable and in 2 cases mild skeletal features, this gene can only be rated Amber on Skeletal dysplasia. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v10.26 | ATRIP | Ida Ertmanska Classified gene: ATRIP as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v10.26 | ATRIP | Ida Ertmanska Gene: atrip has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v10.25 | ATRIP | Ida Ertmanska commented on gene: ATRIP: There are now 3 unrelated probands reported in literature with homozygous variants in ATRIP and severe microcephaly consistent with Seckel syndrome. Skeletal anomalies have been reported: symmertic dwarfism (1/3), delayed bone age (2/3), short stature (2/3), 11 pairs of ribs (1/3), and club foot (1/3). Based on the variable and, in 2 cases, mild skeletal features, this gene can only be rated Amber on Skeletal dysplasia. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v10.25 | ATRIP |
Ida Ertmanska gene: ATRIP was added gene: ATRIP was added to Skeletal dysplasia. Sources: Literature 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 AMBER 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 (final height of 133 cm at age 22 yrs), grossly normal skeletal development (skeletal radiography revealed osteoporotic changes in the bones, delayed bone age, and the presence of 11 pairs of ribs, without other unusual skeletal developmental issues), 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 Sources: Literature |
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