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  3. C1GALT1C1
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Red cell disorders

Gene: C1GALT1C1

Green List (high evidence)
C1GALT1C1 (C1GALT1 specific chaperone 1)
EnsemblGeneIds (GRCh38): ENSG00000171155
EnsemblGeneIds (GRCh37): ENSG00000171155
OMIM: 300611, Gene2Phenotype
C1GALT1C1 is in 3 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Previously known as COSMC
>3 unrelated. In 1 female, she was heterozygous for the variant in whole blood but homozygous in erythroblast culture
Sources: Literature
Created: 15 Mar 2022, 1:28 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 15 Mar 2022, 1:28 a.m.

Panel version: 1.9

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Tn polyagglutination syndrome, somatic MIM#300622
Transcripts
  • Tn polyagglutination syndrome, somatic MIM#300622
Tags
somatic
OMIM
300611
Clinvar variants
Variants in C1GALT1C1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: c1galt1c1 has been classified as Green List (High Evidence).

15 Mar 2022, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: C1GALT1C1 were changed from to Tn polyagglutination syndrome, somatic MIM#300622

15 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: c1galt1c1 has been classified as Green List (High Evidence).

15 Mar 2022, Gel status: 1

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

Ain Roesley (Victorian Clinical Genetics Services)

gene: C1GALT1C1 was added gene: C1GALT1C1 was added to Red cell disorders. Sources: Literature somatic tags were added to gene: C1GALT1C1. Mode of inheritance for gene: C1GALT1C1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: C1GALT1C1 were set to 18537974; 16251947 Review for gene: C1GALT1C1 was set to GREEN gene: C1GALT1C1 was marked as current diagnostic