Rare multisystem ciliopathy disorders
Gene: UMOD
UMOD (uromodulin)
EnsemblGeneIds (GRCh38): ENSG00000169344
EnsemblGeneIds (GRCh37): ENSG00000169344
OMIM: 191845, Gene2Phenotype
UMOD is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000169344
EnsemblGeneIds (GRCh37): ENSG00000169344
OMIM: 191845, Gene2Phenotype
UMOD is in 13 panels
1 review
Alice Gardham (Genomics England)
Comment on list classification: Incorrect phenotypeCreated: 25 Jan 2017, 11:41 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- UKGTN
- Emory Genetics Laboratory
- Expert list
- Phenotypes
-
- Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel
- OMIM
- 191845
- Clinvar variants
- Variants in UMOD
- Penetrance
- Complete
- Panels with this gene
-
- Skeletal dysplasia
- Undiagnosed metabolic disorders
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
- CAKUT
- Likely inborn error of metabolism
- Renal ciliopathies
- Tubulointerstitial kidney disease
- Unexplained kidney failure in young people
- Cystic kidney disease
- Renal tubulopathies
History Filter Activity
26 Jan 2017, Gel status: 1
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January 2017
25 Jan 2017, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
25 Jan 2017, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
25 Nov 2016, Gel status: 2
Upload gene information
Ellen McDonagh (Genomics England Curator)UMOD was added to Rare multisystem ciliopathy disorderspanel. Sources: UKGTN
25 Nov 2016, Gel status: 1
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene UMOD were set to Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel
25 Nov 2016, Gel status: 1
Upload gene information
Ellen McDonagh (Genomics England Curator)UMOD was added to Rare multisystem ciliopathy disorderspanel. Sources: Emory Genetics Laboratory
5 Apr 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)UMOD was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list
5 Apr 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)UMOD was created by ellenmcdonagh