Proteinuria
Gene: YRDC
YRDC (yrdC N6-threonylcarbamoyltransferase domain containing)
EnsemblGeneIds (GRCh38): ENSG00000196449
EnsemblGeneIds (GRCh37): ENSG00000196449
OMIM: 612276, Gene2Phenotype
YRDC is in 4 panels
EnsemblGeneIds (GRCh38): ENSG00000196449
EnsemblGeneIds (GRCh37): ENSG00000196449
OMIM: 612276, Gene2Phenotype
YRDC is in 4 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Three individuals from two unrelated families with typical features of Galloway-Mowat syndrome including proteinuria, microcephaly, developmental delay and brain malformations. Supportive functional data.
Sources: LiteratureCreated: 31 Aug 2020, 10:37 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Galloway-Mowat syndrome
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Galloway-Mowat syndrome
- OMIM
- 612276
- Clinvar variants
- Variants in YRDC
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
31 Aug 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: yrdc has been classified as Green List (High Evidence).
31 Aug 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: yrdc has been classified as Green List (High Evidence).
31 Aug 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: YRDC was added gene: YRDC was added to Proteinuria. Sources: Literature Mode of inheritance for gene: YRDC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: YRDC were set to 31481669 Phenotypes for gene: YRDC were set to Galloway-Mowat syndrome Review for gene: YRDC was set to GREEN