Activity
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13 actions
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| Clefting v6.25 | LRRC32 |
Ida Ertmanska changed review comment from: PMID: 40721351 Shboul et al., 2025 Patient 4 - female fetus, Jordanian ancestry, parents first degree consanguineous; homozygous for LRRC32:c.1630C>T, p.Arg544* mutation; presented with growth delay at 18 weeks gestation; fetal growth retardation, oligohydramnios in addition to both lateral ventricle dilatation and right renal pelvis dilation with ventricular septal defect. At 28 weeks GA, the fetus was terminated - normal female with no external gross anomalies detected. Same variant as in PMID: 30976112 (2 Palestinian families). https://doi.org/10.1016/j.rare.2025.100101 Kumari et al., 2025 Report of a male proband, Pakistani origin, consanguineous parents. He was homozygous for a stop-gain variant in LRRC32 c.1261C>T (p.Arg421*) - confirmed in trans. Variant is rare in gnomAD v4 (MAF = 0.00004464), no homozygotes. Patient presented with cleft palate, proliferative retinopathy (corneal clouding, congenital blindness), and global developmental delay. He also had extremely dry, scaly skin. 3 other unrelated cases described in previous review by Achchuthan Shanmugasundram (2 of them with a founder variant).; to: PMID: 40721351 Shboul et al., 2025 Patient 4 - female fetus, Jordanian ancestry, parents first degree consanguineous; homozygous for LRRC32:c.1630C>T, p.Arg544* mutation; presented with growth delay at 18 weeks gestation; fetal growth retardation, oligohydramnios in addition to both lateral ventricle dilatation and right renal pelvis dilation with ventricular septal defect. At 28 weeks GA, the fetus was terminated - normal female with no external gross anomalies detected. Same variant as in PMID: 30976112 (2 Palestinian families). https://doi.org/10.1016/j.rare.2025.100101 Kumari et al., 2025 Report of a male proband, Pakistani origin, consanguineous parents. He was homozygous for a stop-gain variant in LRRC32 c.1261C>T (p.Arg421*) - confirmed in trans. Variant is rare in gnomAD v4 (MAF = 0.00004464), no homozygotes. Patient presented with cleft palate, proliferative retinopathy (corneal clouding, congenital blindness), and global developmental delay. He also had extremely dry, scaly skin. 3 other unrelated cases described in previous review by Achchuthan Shanmugasundram (2 of them with the same founder variant). |
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| Clefting v6.25 | LRRC32 |
Ida Ertmanska changed review comment from: PMID: 40721351 Shboul et al., 2025 Patient 4 - female fetus, Jordanian ancestry, parents first degree consanguineous; homozygous for LRRC32:c.1630C>T, p.Arg544* mutation; presented with growth delay at 18 weeks gestation; fetal growth retardation, oligohydramnios in addition to both lateral ventricle dilatation and right renal pelvis dilation with ventricular septal defect. At 28 weeks GA, the fetus was terminated - normal female with no external gross anomalies detected. Same variant as in PMID: 30976112 (2 Palestinian families). https://doi.org/10.1016/j.rare.2025.100101 Kumari et al., 2025 Report of a male proband, Pakistani origin, consanguineous parents. He was homozygous for a stop-gain variant in LRRC32 c.1261C>T (p.Arg421*) - confirmed in trans. Variant is rare in gnomAD v4 (MAF = 0.00004464), no homozygotes. Patient presented with cleft palate, proliferative retinopathy (corneal clouding, congenital blindness), and global developmental delay. He also had extremely dry, scaly skin.; to: PMID: 40721351 Shboul et al., 2025 Patient 4 - female fetus, Jordanian ancestry, parents first degree consanguineous; homozygous for LRRC32:c.1630C>T, p.Arg544* mutation; presented with growth delay at 18 weeks gestation; fetal growth retardation, oligohydramnios in addition to both lateral ventricle dilatation and right renal pelvis dilation with ventricular septal defect. At 28 weeks GA, the fetus was terminated - normal female with no external gross anomalies detected. Same variant as in PMID: 30976112 (2 Palestinian families). https://doi.org/10.1016/j.rare.2025.100101 Kumari et al., 2025 Report of a male proband, Pakistani origin, consanguineous parents. He was homozygous for a stop-gain variant in LRRC32 c.1261C>T (p.Arg421*) - confirmed in trans. Variant is rare in gnomAD v4 (MAF = 0.00004464), no homozygotes. Patient presented with cleft palate, proliferative retinopathy (corneal clouding, congenital blindness), and global developmental delay. He also had extremely dry, scaly skin. 3 other unrelated cases described in previous review by Achchuthan Shanmugasundram (2 of them with a founder variant). |
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| Clefting v6.25 | LRRC32 | Ida Ertmanska changed review comment from: Comment on list classification: There are now 3 unrelated individuals with 3 different homozygous LRRC32 variants and clefting. Hence, this gene should be promoted to Green at the next update.; to: Comment on list classification: There are now more than 3 unrelated individuals with 3 different homozygous LRRC32 variants and clefting. Hence, this gene should be promoted to Green at the next update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v6.25 | LRRC32 |
Ida Ertmanska changed review comment from: PMID: 40721351 Shboul et al., 2025 Patient 4 - female fetus, Jordanian ancestry, parents first degree consanguineous; homozygous for LRRC32:c.1630C>T, p.Arg544* mutation; presented with growth delay at 18 weeks gestation; fetal growth retardation, oligohydramnios in addition to both lateral ventricle dilatation and right renal pelvis dilation with ventricular septal defect. At 28 weeks GA, the fetus was terminated - normal female with no external gross anomalies detected. https://doi.org/10.1016/j.rare.2025.100101 Kumari et al., 2025 Report of a male proband, Pakistani origin, consanguineous parents. He was homozygous for a stop-gain variant in LRRC32 c.1261C>T (p.Arg421*) - confirmed in trans. Variant is rare in gnomAD v4 (MAF = 0.00004464), no homozygotes. Patient presented with cleft palate, proliferative retinopathy (corneal clouding, congenital blindness), and global developmental delay. He also had extremely dry, scaly skin.; to: PMID: 40721351 Shboul et al., 2025 Patient 4 - female fetus, Jordanian ancestry, parents first degree consanguineous; homozygous for LRRC32:c.1630C>T, p.Arg544* mutation; presented with growth delay at 18 weeks gestation; fetal growth retardation, oligohydramnios in addition to both lateral ventricle dilatation and right renal pelvis dilation with ventricular septal defect. At 28 weeks GA, the fetus was terminated - normal female with no external gross anomalies detected. Same variant as in PMID: 30976112 (2 Palestinian families). https://doi.org/10.1016/j.rare.2025.100101 Kumari et al., 2025 Report of a male proband, Pakistani origin, consanguineous parents. He was homozygous for a stop-gain variant in LRRC32 c.1261C>T (p.Arg421*) - confirmed in trans. Variant is rare in gnomAD v4 (MAF = 0.00004464), no homozygotes. Patient presented with cleft palate, proliferative retinopathy (corneal clouding, congenital blindness), and global developmental delay. He also had extremely dry, scaly skin. |
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| Clefting v6.25 | LRRC32 | Ida Ertmanska Classified gene: LRRC32 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v6.25 | LRRC32 | Ida Ertmanska Added comment: Comment on list classification: There are now 3 unrelated individuals with 3 different homozygous LRRC32 variants and clefting. Hence, this gene should be promoted to Green at the next update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v6.25 | LRRC32 | Ida Ertmanska Gene: lrrc32 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v6.24 | LRRC32 | Ida Ertmanska Publications for gene: LRRC32 were set to 30976112; 35656379 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v6.23 | LRRC32 | Ida Ertmanska Tag Q2_26_promote_green tag was added to gene: LRRC32. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v6.23 | LRRC32 | Ida Ertmanska reviewed gene: LRRC32: Rating: GREEN; Mode of pathogenicity: None; Publications: 40721351, https://doi.org/10.1016/j.rare.2025.100101; Phenotypes: Cleft palate, proliferative retinopathy, and developmental delay, OMIM:619074; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v4.104 | LRRC32 | Achchuthan Shanmugasundram Classified gene: LRRC32 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v4.104 | LRRC32 | Achchuthan Shanmugasundram Gene: lrrc32 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v4.103 | LRRC32 |
Achchuthan Shanmugasundram gene: LRRC32 was added gene: LRRC32 was added to Clefting. Sources: Literature founder-effect tags were added to gene: LRRC32. Mode of inheritance for gene: LRRC32 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LRRC32 were set to 30976112; 35656379 Phenotypes for gene: LRRC32 were set to Cleft palate, proliferative retinopathy, and developmental delay, OMIM:619074 Review for gene: LRRC32 was set to AMBER Added comment: PMID:30976112 reported two unrelated families with global developmental delay, cleft palate, and proliferative retinopathy and they were identified with the same homozygous LRRC32 variant c.1630C>T/ p.Arg544Ter. This variant was suggested to be founder variant, as indicated by haplotype analysis. PMID:35656379 reported a different homozygous LRRC32 variant (c.1354 G > A/ p.Glu452Lys) in a 15-year-old male with cleft palate, prenatal and postnatal severe growth retardation, global developmental delay, dysmorphic facial features and progressive vitreoretinopathy. This gene has already been associated with relevant phenotypes in OMIM (MIM #619074), but not yet in Gene2Phenotype. Sources: Literature |
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