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  2. Likely inborn error of metabolism
  3. C1GALT1C1
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Likely inborn error of metabolism

Gene: C1GALT1C1

Red List (low evidence)
C1GALT1C1 (C1GALT1 specific chaperone 1)
EnsemblGeneIds (GRCh38): ENSG00000171155
EnsemblGeneIds (GRCh37): ENSG00000171155
OMIM: 300611, Gene2Phenotype
C1GALT1C1 is in 4 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Somatic variants responsible for phenotype
Created: 6 Feb 2017, 4:25 p.m.
Comment on mode of inheritance: Somatic variants associated with Tn polyagglutination syndrome, somatic 300622
Created: 6 Feb 2017, 4:24 p.m.
Created: 6 Feb 2017, 4:24 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.271

Details

Mode of Inheritance
Other - please specify in evaluation comments
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Red
Phenotypes
  • COSMC-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies)
  • Tn polyagglutination syndrome, somatic
  • Tn polyagglutination syndrome, somatic 300622
OMIM
300611
Clinvar variants
Variants in C1GALT1C1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 1

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to C1GALT1C1. Source London North GLH was added to C1GALT1C1.

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

Set mode of inheritance, Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for gene C1GALT1C1 was changed from Other - please specifiy in evaluation comments to Other - please specify in evaluation comments Added phenotypes COSMC-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies); Tn polyagglutination syndrome, somatic 300622 for gene: C1GALT1C1 Publications for gene C1GALT1C1 were changed from 27604308 to 27604308; 19778426; 27536663

16 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: C1GALT1C1 was added gene: C1GALT1C1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: C1GALT1C1 was set to Other - please specifiy in evaluation comments Publications for gene: C1GALT1C1 were set to 27604308 Phenotypes for gene: C1GALT1C1 were set to Tn polyagglutination syndrome, somatic