Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Gene: CDX2EnsemblGeneIds (GRCh38): ENSG00000165556
EnsemblGeneIds (GRCh37): ENSG00000165556
OMIM: 600297, Gene2Phenotype
CDX2 is in 3 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Two individuals with de novo variants reported.Created: 5 May 2020, 12:59 a.m. | Last Modified: 5 May 2020, 12:59 a.m.
Panel Version: 0.2734
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Persistent cloaca
Publications
Chirag Patel (Genetic Health Queensland)
9 families, with heterozygous variants identified with WES, presenting with congenital abnormalities affecting the development of the anus, the renal and urogenital system, the vertebrae and/or the limbs in varying sequences and severity (incl. sirenomelia and persistent cloaca). A recurrent pathogenic missense variant in the HOX domain of the protein p.(Arg237His) was found in 3 unrelated families. In the mouse cdx2 is essential for anteroposterior patterning of embryonal axis and morphogenesis of cloacal structures. Cdx2 heterozygous conditional mutant mice show a variable phenotype (including imperforate anus, sirenomelia, posterior vertebral truncations, and bladder anomalies).Created: 27 Feb 2022, 10:52 p.m. | Last Modified: 27 Feb 2022, 10:52 p.m.
Panel Version: 0.100
no human link to renal disease/CAKUTCreated: 27 Nov 2019, 11:21 p.m. | Last Modified: 27 Nov 2019, 11:21 p.m.
Panel Version: 0.0
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Congenital abnormalities of anus, renal and urogenital system, vertebrae and/or the limbs
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Victorian Clinical Genetics Services
- Phenotypes
-
- Genetic multiple congenital anomalies/dysmorphic syndrome, MONDO:0043005
- Congenital abnormalities of anus, renal and urogenital system, vertebrae and/or the limbs
- OMIM
- 600297
- Clinvar variants
- Variants in CDX2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: CDX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: CDX2 were set to
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: CDX2 were changed from to Genetic multiple congenital anomalies/dysmorphic syndrome, MONDO:0043005; Congenital abnormalities of anus, renal and urogenital system, vertebrae and/or the limbs
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: cdx2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cdx2 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cdx2 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: CDX2 was added gene: CDX2 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: CDX2 was set to Unknown