CAKUT
Gene: NIPBLComment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 13 variants reported. PMID 8291540 presents extensive evidence for renal involvement in 61 Cornelia de Lange syndrome 1 cases; including structural anomalies of the kidney system in 25 (41%): absent or poor corticomedullary differentiation (8 cases), pelvic dilation (6 cases), vesicoureteral reflux (5 cases), small kidney (3 cases), isolated renal cyst (3 cases), renal ectopia (2 cases), renal function reduced (9 cases).Created: 21 May 2020, 2:38 p.m. | Last Modified: 26 May 2020, 2:18 p.m.
Panel Version: 1.148
Renal abnormalities, primarily vesicoureteral reflux, have been reported in 12%
Sources: Expert listCreated: 16 Jan 2020, 4:19 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cornelia de Lange syndrome 1, MIM# 122470
Publications
Variants in this GENE are reported as part of current diagnostic practice
Publications for gene: NIPBL were set to 8291537; 16799922; 15146186; 15146185; 15318302
Gene: nipbl has been classified as Green List (High Evidence).
Gene: nipbl has been classified as Amber List (Moderate Evidence).
Publications for gene: NIPBL were set to 8291537; 16799922; 15146186; 15146185; 15318302
Phenotypes for gene: NIPBL were changed from Cornelia de Lange syndrome 1, MIM# 122470 to Cornelia de Lange syndrome 1 122470
Publications for gene: NIPBL were set to 8291537
gene: NIPBL was added gene: NIPBL was added to CAKUT. Sources: Expert list Mode of inheritance for gene: NIPBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NIPBL were set to 8291537 Phenotypes for gene: NIPBL were set to Cornelia de Lange syndrome 1, MIM# 122470 Review for gene: NIPBL was set to GREEN gene: NIPBL was marked as current diagnostic