Tubulointerstitial kidney disease
Gene: DCDC2

DCDC2 (doublecortin domain containing 2)
EnsemblGeneIds (GRCh38): ENSG00000146038
EnsemblGeneIds (GRCh37): ENSG00000146038
OMIM: 605755, Gene2Phenotype
DCDC2 is in 8 panels

1 review

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Emma Ashton (NE Thames Regional Genetics laboratory, GOSH NHS Foundation Trust) January 2019 on behalf of the GMS Renal Specialist Test Group.Gene Symbol submitted:DCDC2;Suggested initial gene rating: Amber;Evidence for inclusion: 2 families with Nephronophthisis-related ciliopathy in Schueler paper. Mouse model ? Enough for green. 7 families with neonatal sclerosing cholangitis described by Grammatikopoulos (2016);Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided
Created: 2 Feb 2019, 12:48 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephronopthisis 19 MIM 616217; Sclerosing cholangitis, neonatal MIM 617394; ?Deafness, autosomal recessive 66 MIM 610212

Publications

Schueler (2015) Am J Hum Genet 96, 81 PMID 25557784

Created: 2 Feb 2019, 12:48 a.m.

Panel version: 0.3

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Amber

Phenotypes

Sclerosing cholangitis, neonatal MIM 617394
?Deafness, autosomal recessive 66 MIM 610212
Nephronopthisis 19 MIM 616217

OMIM

605755

Clinvar variants

Variants in DCDC2

Penetrance

None

Publications

25557784

Panels with this gene

History Filter Activity

2 Feb 2019, Gel status: 2

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

Eleanor Williams (Genomics England Curator)

gene: DCDC2 was added gene: DCDC2 was added to Tubulointerstitial kidney disease. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: DCDC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DCDC2 were set to 25557784 Phenotypes for gene: DCDC2 were set to Sclerosing cholangitis, neonatal MIM 617394; ?Deafness, autosomal recessive 66 MIM 610212; Nephronopthisis 19 MIM 616217

Tubulointerstitial kidney disease Gene: DCDC2