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Fetal anomalies

Gene: ATP11C

Amber List (moderate evidence)
ATP11C (ATPase phospholipid transporting 11C)
EnsemblGeneIds (GRCh38): ENSG00000101974
EnsemblGeneIds (GRCh37): ENSG00000101974
OMIM: 300516, Gene2Phenotype
ATP11C is in 1 panel

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36
Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.36

Samantha Doyle (The National Maternity Hospital)

I don't know

Not on Panel App. Addition in Hydrops review based on one reported case. Suggest amber. Amber
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

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

Phenotypes
X-linked hemolytic anemia

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • ?Hemolytic anemia, congenital, X-linked, OMIM:301015
OMIM
300516
Clinvar variants
Variants in ATP11C
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Aug 2024, Gel status: 2

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: ATP11C was added gene: ATP11C was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: ATP11C was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ATP11C were set to 33082562 Phenotypes for gene: ATP11C were set to ?Hemolytic anemia, congenital, X-linked, OMIM:301015