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| Congenital anomalies of the kidney and urinary tract (CAKUT) v1.5 | CHAF1A |
Lucy Spencer changed review comment from: PMID 39333427 reports 8 individuals from 6 families with oculoauriculovertebral spectrum and heterozygous variants in CHAF1A- 2 canonical splice and 4 PTC. 5 of the variants were de novo (1 of which was then inherited by the probands affected children) and 1 was inherited from a healthy father. all variants were absent from gnomad and the gene is constrained for LOF variants. Cleft lip/plate was observed in one individual Sources: Literature; to: PMID 39333427 reports 8 individuals from 6 families with oculoauriculovertebral spectrum and heterozygous variants in CHAF1A- 2 canonical splice and 4 PTC. 5 of the variants were de novo (1 of which was then inherited by the probands affected children) and 1 was inherited from a healthy father. all variants were absent from gnomad and the gene is constrained for LOF variants. 2 individuals had unilateral renal agenesis and vesicoureteral reflux or fused pelvic kidneys Sources: Literature |
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| Congenital anomalies of the kidney and urinary tract (CAKUT) v1.5 | Lucy Spencer Copied gene CHAF1A from panel Clefting disorders | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v1.5 | CHAF1A |
Lucy Spencer gene: CHAF1A was added gene: CHAF1A was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Amber,Literature,Literature Mode of inheritance for gene: CHAF1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CHAF1A were set to 39333427 Phenotypes for gene: CHAF1A were set to oculoauriculovertebral spectrum with radial defects MONDO:0007712, CHAF1A-related |
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