Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Gene: CDC5LEnsemblGeneIds (GRCh38): ENSG00000096401
EnsemblGeneIds (GRCh37): ENSG00000096401
OMIM: 602868, Gene2Phenotype
CDC5L is in 1 panel
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Two individuals from a single family with heterozygous variant in this gene.
Sources: Expert listCreated: 28 Nov 2019, 3:49 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Congenital abnormalities of the kidneys and urinary tract
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Expert list
- Phenotypes
-
- Congenital abnormalities of the kidneys and urinary tract
- OMIM
- 602868
- Clinvar variants
- Variants in CDC5L
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cdc5l has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cdc5l has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cdc5l has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cdc5l has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: CDC5L was added gene: CDC5L was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Expert list Mode of inheritance for gene: CDC5L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CDC5L were set to 24429398 Phenotypes for gene: CDC5L were set to Congenital abnormalities of the kidneys and urinary tract Review for gene: CDC5L was set to AMBER