Activity
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15 actions
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| Congenital disorders of glycosylation v7.11 | A4GALT | Achchuthan Shanmugasundram Classified gene: A4GALT as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v7.11 | A4GALT | Achchuthan Shanmugasundram Gene: a4galt has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v7.10 | A4GALT | Achchuthan Shanmugasundram Tag curated_removed tag was added to gene: A4GALT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v7.10 | A4GALT | Achchuthan Shanmugasundram Phenotypes for gene: A4GALT were changed from congenital disorder of glycosylation, MONDO:0015286 to [Blood group, P1Pk system, p phenotype], OMIM:111400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v7.9 | A4GALT | Achchuthan Shanmugasundram Publications for gene: A4GALT were set to 12823750,15142124; 10747952; 10993874; 11896312; 27612185 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v7.8 | A4GALT | Ida Ertmanska edited their review of gene: A4GALT: Changed phenotypes to: [Blood group, P1Pk system, p phenotype], OMIM:111400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v7.8 | A4GALT | Ida Ertmanska changed review comment from: LoF variants in this gene lead to a rare 'P-Null' blood type (absence of P and Pk blood group antigens). The phenotype is usually spontaneous abortions and significant haemolytic complications upon transfusion of incompatible blood (PMID: 27612185 Li et al., 2017). While the mechanism is indeed a Congenital disorders of glycosylation (impaired Gb3/CD77 synthase activity), this phenotype does not fit into the scope of the panel.; to: LoF variants in this gene lead to a rare 'P-Null' blood type (absence of P and Pk blood group antigens). The phenotype is usually spontaneous abortions and significant haemolytic complications upon transfusion of incompatible blood (PMID: 27612185 Li et al., 2017). While the mechanism is indeed a Congenital disorders of glycosylation (impaired Gb3/CD77 synthase activity), testing for a rare blood group antigen does not fit into the scope of the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v7.8 | A4GALT | Ida Ertmanska edited their review of gene: A4GALT: Changed publications to: 27612185; Changed phenotypes to: [Blood group, P1PK system, P(k) phenotype], OMIM:111400; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v7.8 | A4GALT | Ida Ertmanska commented on gene: A4GALT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v7.8 | A4GALT | Ida Ertmanska Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v7.8 | A4GALT | Ida Ertmanska changed review comment from: LoF variants in this gene lead to a rare 'P-Null' blood type (absence of P and Pk blood group antigens). The phenotype is usually spontaneous abortions and significant haemolytic complications upon transfusion of incompatible blood (PMID: 27612185 Li et al., 2017). While the mechanism is indeed a Congenital disorders of glycosylation (impaired Gb3/CD77 synthase activity), this phenotype does not fit into the scope of the panel. Hence, A4GALT should be rated Red for Congenital disorders of glycosylation.; to: LoF variants in this gene lead to a rare 'P-Null' blood type (absence of P and Pk blood group antigens). The phenotype is usually spontaneous abortions and significant haemolytic complications upon transfusion of incompatible blood (PMID: 27612185 Li et al., 2017). While the mechanism is indeed a Congenital disorders of glycosylation (impaired Gb3/CD77 synthase activity), this phenotype does not fit into the scope of the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v7.8 | A4GALT | Ida Ertmanska reviewed gene: A4GALT: Rating: RED; Mode of pathogenicity: None; Publications: 27612185; Phenotypes: [Blood group, P1Pk system, p phenotype], OMIM:111400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v7.8 | A4GALT | Ida Ertmanska Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v7.8 | A4GALT | Ida Ertmanska edited their review of gene: A4GALT: Changed publications to: 12823750, 15142124, 10747952, 10993874, 11896312, 27612185 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v7.8 | A4GALT |
Ida Ertmanska gene: A4GALT was added gene: A4GALT was added to Congenital disorders of glycosylation. Sources: ClinGen Mode of inheritance for gene: A4GALT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: A4GALT were set to 12823750,15142124; 10747952; 10993874; 11896312; 27612185 Phenotypes for gene: A4GALT were set to congenital disorder of glycosylation, MONDO:0015286 Review for gene: A4GALT was set to GREEN Added comment: A4GALT was first reported in relation to autosomal recessive congenital disorder of glycosylation in 2000 (Steffensen et al., PMID: 10747952). A4GALT-congenital disorder of glycosylation presents as the blood group phenotype p null. Persons affected with this condition may present with no phenotype beyond abnormal agglutination in standard blood group serological testing or may present with recurrent spontaneous abortion or congenital hemolytic anemia. 14 variants (missense, in-frame indel, nonsense, frameshift) that have been reported in 13 probands in 6 publications (PMIDs: 12823750, 15142124, 10747952, 10993874, 11896312, 27612185) are included in this curation. The mechanism of pathogenicity is known to be loss of function. This gene-disease relationship is also supported by in vitro functional assays. (PMIDs: 23927681, 18067504). The gene-disease relationship is classified as Definitive in ClinGen (May 2025). Sources: ClinGen |
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