Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Gene: CHD1LComment when marking as ready: The population variant frequencies are out of keeping for a Mendelian disorder.Created: 18 Jun 2020, 10:36 a.m. | Last Modified: 18 Jun 2020, 10:36 a.m.
Panel Version: 0.72
Review of this gene during variant curation. The 6 missense variants reported in the two papers (PMID: 22146311, 24429398) are very common in gnomAD:
CHD1L:c.2098G>A; p.Gly700Arg - 1110 hets, 5 hom
CHD1L:c.2295A>G; p.Ile765Met - 468 hets, 1 hom
CHD1L:c.2479A>G; p.Ile827Val – 725 hets, 2 hom
CHD1L:c.998C>G; p.Pro333Arg – 1 het, 0 hom
CHD1L:c.1199A>G; p.Glu400Gly – 3 hets, 0 hom
CHD1L:c.1551A>G; p.Ile517Met – 195 hets, 0 hom
I could not find any other papers for this gene in association with CAKUT. ClinVar only has 1 frameshift variant reported as pathogenic from research in 2001 for an unrelated condition (short stature), the other variants reported in this gene are VUS or LB/B.Created: 18 Jun 2020, 3:48 a.m. | Last Modified: 18 Jun 2020, 3:48 a.m.
Panel Version: 0.71
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
CAKUT
Publications
Two of three novel heterozygous missense variants identified in 3 CAKUT patients. Quantitative messenger RNA analysis demonstrated high CHD1L expression in human fetal kidneys, and levels were four times higher than in adult kidneys. In the human embryo at 7-11 weeks gestation, CHD1L immunolocalized in the early ureteric bud and the S- and comma-shaped bodies, critical stages of kidney development. In normal postnatal sections, CHD1L was expressed in the cytoplasm of tubular cells in all tubule segments. CHD1L expression appeared higher in the hydronephrotic kidney of one patient with a hypofunctional CHD1L variant than in normal kidneys, recapitulating high fetal levels.
5 unrelated patients with CAKUT and CHD1LCreated: 16 Jan 2020, 3:31 a.m. | Last Modified: 16 Jan 2020, 3:31 a.m.
Panel Version: 0.27
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
CAKUT
Publications
Gene: chd1l has been classified as Red List (Low Evidence).
Gene: chd1l has been classified as Red List (Low Evidence).
Tag disputed tag was added to gene: CHD1L.
Phenotypes for gene: CHD1L were changed from CAKUT to CAKUT
Gene: chd1l has been classified as Green List (High Evidence).
Phenotypes for gene: CHD1L were changed from to CAKUT
Publications for gene: CHD1L were set to
Mode of inheritance for gene: CHD1L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gene: CHD1L was added gene: CHD1L was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CHD1L was set to Unknown