Activity
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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: 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 v2.8 | MAPRE2 | Arina Puzriakova Phenotypes for gene: MAPRE2 were changed from SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2 to Symmetric circumferential skin creases, congenital, 2, 616734 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v1.25 | ISCA-37393-Gain |
Louise Daugherty Region: ISCA-37393-Gain was added Region: ISCA-37393-Gain was added to Clefting. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37393-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37393-Gain were set to 11693792; 22890013; 22495764 Phenotypes for Region: ISCA-37393-Gain were set to PMID 22890013: variable phenotype including developmental delay, ocular coloboma, preauricular tags/pits, cleft palate, skeletal defects, heart defects, urogenital defect, anal defect, hearing loss, clinodactyly of fifth fingers, umbilical hernia, accessory spleen, strabismus, shortening of the fifth finger. PMID 22495764: Inter and intra individual variability of phenotype, mosaic. PMID 11693792: preauricular skin tags and pits, downslanting palpebral fissures, hypertelorism, ectopic anus, hypospadias, and hypoplastic left heart syndrome; 115470 |
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| Clefting | SKI | Helen Brittain reviewed SKI | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||