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  3. YRDC
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Fetal anomalies

Gene: YRDC

Red List (low evidence)
YRDC (yrdC N6-threonylcarbamoyltransferase domain containing)
EnsemblGeneIds (GRCh38): ENSG00000196449
EnsemblGeneIds (GRCh37): ENSG00000196449
OMIM: 612276, Gene2Phenotype
YRDC is in 3 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36
Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.36

Samantha Doyle (The National Maternity Hospital)

Red List (low evidence)

On proteinuric renal disease and DDG2P panels. PMID:31481669 - Cortical atrophy and cortical abnormality of myelination - progressive, prenatal presentation referenced. Suggest red. Red
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Galloway-Mowat syndrome 10, OMIM:619609

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Galloway-Mowat syndrome 10, OMIM:619609
OMIM
612276
Clinvar variants
Variants in YRDC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Aug 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

gene: YRDC was added gene: YRDC was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: YRDC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: YRDC were set to 31481669; 34545459 Phenotypes for gene: YRDC were set to Galloway-Mowat syndrome 10, OMIM:619609