Proteinuria
Gene: DLC1EnsemblGeneIds (GRCh38): ENSG00000164741
EnsemblGeneIds (GRCh37): ENSG00000164741
OMIM: 604258, Gene2Phenotype
DLC1 is in 4 panels
2 reviews
Bryony Thompson (Royal Melbourne Hospital)
Biallelic variants in 4 families, and knockdown of DLC1 in cultured podocytes reduces migration rate and treatment with dexamethasone abolishes RhoA activation.
Sources: Expert listCreated: 21 Feb 2022, 12:54 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephrotic syndrome MONDO:0005377
Publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Four unrelated families reported.
Sources: Expert listCreated: 9 Jan 2020, 12:59 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neprhotic syndrome
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Expert Review Green
- Expert list
- Phenotypes
-
- Neprhotic syndrome
- OMIM
- 604258
- Clinvar variants
- Variants in DLC1
- 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: dlc1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dlc1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: DLC1 was added gene: DLC1 was added to Proteinuria_VCGS_KidGen. Sources: Expert list Mode of inheritance for gene: DLC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DLC1 were set to 29773874 Phenotypes for gene: DLC1 were set to Neprhotic syndrome Review for gene: DLC1 was set to GREEN