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Mendeliome v2.0 ATP11C Gene migrated from ENSG00000101974 to ENSG00000101974 (gene set migration)
Mendeliome v1.4901 ATP11C Chirag Patel Publications for gene: ATP11C were set to 41523080; 40869043; 37892263; 37671681; 26944472; 37314652
Mendeliome v1.4900 ATP11C Chirag Patel Phenotypes for gene: ATP11C were changed from X-linked congenital hemolytic anemia, MONDO:0060455 to X-linked congenital hemolytic anemia, MONDO:0060455
Mendeliome v1.4899 ATP11C Chirag Patel Phenotypes for gene: ATP11C were changed from X-linked congenital hemolytic anemia, MONDO:0060455 to X-linked congenital hemolytic anemia, MONDO:0060455
Mendeliome v1.4900 ATP11C Chirag Patel Phenotypes for gene: ATP11C were changed from Hemolytic anemia, congenital, X-linked MIM#301015 to X-linked congenital hemolytic anemia, MONDO:0060455
Mendeliome v1.4899 ATP11C Chirag Patel Classified gene: ATP11C as Green List (high evidence)
Mendeliome v1.4899 ATP11C Chirag Patel Gene: atp11c has been classified as Green List (High Evidence).
Mendeliome v1.4898 ATP11C Chirag Patel Marked gene: ATP11C as ready
Mendeliome v1.4898 ATP11C Chirag Patel Gene: atp11c has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4898 Chirag Patel Added reviews for gene ATP11C from panel Red cell disorders
Mendeliome v1.4330 ATP11C Lucy Spencer Publications for gene: ATP11C were set to 41523080; 40869043; 37892263; 37671681; 26944472
Mendeliome v1.4329 ATP11C Lucy Spencer edited their review of gene: ATP11C: Changed publications: 41523080, 40869043, 37892263, 37671681, 26944472, 37314652
Mendeliome v1.4329 ATP11C Lucy Spencer changed review comment from: PMID: 40869043 reports 3 unrelated families with haemolytic anaemia and ATP11C variants. Probands were all hemizygous boys who had maternally inherited variants, all variants were absent or only has 1 het in gnomad. One family had a frameshift, another ha 2 missense variants in cis, and the third had a -7 splice variant that RT-PCR showed resulted in an in frame insertion. 2 probands were shown to have normal G6PD activity and haemoglobin, the third was not tested. The proband with the ATP11C frameshift also had a de novo missense in ANK1

PMID: 37892263, 37671681, 26944472 report 3 hemizygous male haemolytic anaemia. However 2 of the patients had pathogenic variants in genes associated with spherocytosis SPTA1 and ANK1. The ATP11C variants were absent or rare in gnomad (note papers use different transcripts/p. numbering to gnomad).

PMID: 41523080 reports 2 of the same patients as PMID:40869043 and additionally looked at Val972Met in a very large cohort of blood donors, but this variant is called Val969Met in gnomad where it has thousands of hets and hemizygotes.
Sources: Literature; to: PMID: 40869043 reports 4 patients from 3 unrelated families with haemolytic anaemia and ATP11C variants. Probands were all hemizygous boys who had maternally inherited variants, all variants were absent or only has 1 het in gnomad. One family had a frameshift, another ha 2 missense variants in cis, and the third had a -7 splice variant that RT-PCR showed resulted in an in frame insertion. 2 probands were shown to have normal G6PD activity and haemoglobin, the third was not tested. The proband with the ATP11C frameshift also had a de novo missense in ANK1. Studies in patient RBS for all 4 patients showed reduced flippase activity.

PMID: 37892263, 37671681, 26944472 report 3 hemizygous male haemolytic anaemia. However 2 of the patients had pathogenic variants in genes associated with spherocytosis SPTA1 and ANK1. The ATP11C variants were absent or rare in gnomad (note papers use different transcripts/p. numbering to gnomad).

PMID: 41523080 reports 2 of the same patients as PMID:40869043 and additionally looked at Val972Met in a very large cohort of blood donors, but this variant is called Val969Met in gnomad where it has thousands of hets and hemizygotes.

PMID: 37314652 One hemizygous male with a frameshift in ATP11C and agranulocytosis, recurrent acute liver failure and developmental delay. Previously published mouse models deficient in ATP11C displayed conjugated hyperbilirubinemia, hyperchloremia, and hemolytic anemia.
Sources: Literature
Mendeliome v1.4329 ATP11C Lucy Spencer Classified gene: ATP11C as Amber List (moderate evidence)
Mendeliome v1.4329 ATP11C Lucy Spencer Gene: atp11c has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4328 ATP11C Lucy Spencer gene: ATP11C was added
gene: ATP11C was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ATP11C 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: ATP11C were set to 41523080; 40869043; 37892263; 37671681; 26944472
Phenotypes for gene: ATP11C were set to Hemolytic anemia, congenital, X-linked MIM#301015
Review for gene: ATP11C was set to AMBER
Added comment: PMID: 40869043 reports 3 unrelated families with haemolytic anaemia and ATP11C variants. Probands were all hemizygous boys who had maternally inherited variants, all variants were absent or only has 1 het in gnomad. One family had a frameshift, another ha 2 missense variants in cis, and the third had a -7 splice variant that RT-PCR showed resulted in an in frame insertion. 2 probands were shown to have normal G6PD activity and haemoglobin, the third was not tested. The proband with the ATP11C frameshift also had a de novo missense in ANK1

PMID: 37892263, 37671681, 26944472 report 3 hemizygous male haemolytic anaemia. However 2 of the patients had pathogenic variants in genes associated with spherocytosis SPTA1 and ANK1. The ATP11C variants were absent or rare in gnomad (note papers use different transcripts/p. numbering to gnomad).

PMID: 41523080 reports 2 of the same patients as PMID:40869043 and additionally looked at Val972Met in a very large cohort of blood donors, but this variant is called Val969Met in gnomad where it has thousands of hets and hemizygotes.
Sources: Literature