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| 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 |
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| 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 |
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