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  3. C1GALT1C1
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Atypical Haemolytic Uraemic Syndrome_MPGN

Gene: C1GALT1C1

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Additional report of two maternal half-brothers with a missense variant, with some supportive functional data.
Created: 14 Jul 2023, 7:50 a.m. | Last Modified: 14 Jul 2023, 7:50 a.m.
Panel Version: 0.49

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

Phenotypes
Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature, MIM# 301110

Publications

Created: 14 Jul 2023, 7:50 a.m.
Last Modified: 14 Jul 2023, 7:50 a.m.
Panel version: 0.51

Ain Roesley (Victorian Clinical Genetics Services)

Red List (low evidence)

1x male with de novo p.(Thr89Ile) which is absent in gnomAD v2 and v3 and has very high conservation
Sources: Literature
Created: 2 Feb 2023, 3:53 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
atypical haemolytic-uremic syndrome MONDO#0016244, C1GALT1C1-related

Publications

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

Created: 2 Feb 2023, 3:53 a.m.

Panel version: 0.49

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Haemolytic uraemic syndrome, atypical, 8, with rhizomelic short stature, MIM# 301110
OMIM
300611
Clinvar variants
Variants in C1GALT1C1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Jul 2023, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: C1GALT1C1 were changed from atypical hemolytic-uremic syndrome MONDO#0016244, C1GALT1C1-related to Haemolytic uraemic syndrome, atypical, 8, with rhizomelic short stature, MIM# 301110

14 Jul 2023, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: C1GALT1C1 were set to 36599939

14 Jul 2023, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: C1GALT1C1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females

14 Jul 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: c1galt1c1 has been classified as Amber List (Moderate Evidence).

2 Feb 2023, Gel status: 1

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: c1galt1c1 has been classified as Red List (Low Evidence).

2 Feb 2023, Gel status: 1

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

Ain Roesley (Victorian Clinical Genetics Services)

gene: C1GALT1C1 was added gene: C1GALT1C1 was added to Atypical Haemolytic Uraemic Syndrome_MPGN. Sources: Literature Mode of inheritance for gene: C1GALT1C1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: C1GALT1C1 were set to 36599939 Phenotypes for gene: C1GALT1C1 were set to atypical hemolytic-uremic syndrome MONDO#0016244, C1GALT1C1-related Review for gene: C1GALT1C1 was set to RED gene: C1GALT1C1 was marked as current diagnostic