Activity

Filter

Cancel
Date Panel Item Activity
14 actions
Renal tubulopathies v2.63 GATM Arina Puzriakova Phenotypes for gene: GATM were changed from Renal fanconi syndrome and kidney failure (no MIM number); Cerebral creatine deficiency syndrome 3, 612718 (AR) to Fanconi renotubular syndrome 1, OMIM:134600
Renal tubulopathies v1.193 GATM Eleanor Williams Mode of pathogenicity for gene: GATM was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Renal tubulopathies v1.119 GATM Eleanor Williams Classified gene: GATM as Green List (high evidence)
Renal tubulopathies v1.119 GATM Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green as more than 3 cases reported.
Renal tubulopathies v1.119 GATM Eleanor Williams Gene: gatm has been classified as Green List (High Evidence).
Renal tubulopathies v1.118 GATM Eleanor Williams Added comment: Comment on mode of pathogenicity: All missense variants reported to date. In silico analysis suggests that the variants result in an additional interaction interface
Renal tubulopathies v1.118 GATM Eleanor Williams Mode of pathogenicity for gene: GATM was changed from to None
Renal tubulopathies v1.117 GATM Eleanor Williams Mode of inheritance for gene: GATM was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Renal tubulopathies v1.116 GATM Eleanor Williams changed review comment from: PMID: 29654216 (Reichold et al 2018) reports 5 families with with a novel form of autosomal dominant kidney disease characterized by renal tubular Fanconi syndrome early in life followed by progression to renal glomerular failure in mid-adulthood. All patients show monoallelic mutations in the gene GATM. 4 heterozygous missense mutations of evolutionary conserved amino acid residues in GATM were found (c.958C>T, p.P320S; c.1006A>G, p.T336A; c.1007C>T, p.T336I;
c.1022C>T, p.P341L). In each family, one variant segregated with the disorder and was fully penetrant. In silico analysis showed that the particular GATM mutations create an additional interaction interface within the GATM protein and likely cause the linear aggregation of GATM observed in patient biopsy specimens and cultured proximal tubule cells.; to: PMID: 29654216 (Reichold et al 2018) reports 5 families with with a novel form of autosomal dominant kidney disease characterized by renal tubular Fanconi syndrome early in life followed by progression to renal glomerular failure in mid-adulthood. All patients show monoallelic mutations in the gene GATM. 4 heterozygous missense mutations of evolutionary conserved amino acid residues in GATM were found (c.958C>T, p.P320S; c.1006A>G, p.T336A; c.1007C>T, p.T336I; c.1022C>T, p.P341L). In each family, one variant segregated with the disorder and was fully penetrant. In silico analysis showed that the particular GATM mutations create an additional interaction interface within the GATM protein and likely cause the linear aggregation of GATM observed in patient biopsy specimens and cultured proximal tubule cells.
Renal tubulopathies v1.82 GATM Eleanor Williams commented on gene: GATM: PMID: 29654216 (Reichold et al 2018) reports 5 families with with a novel form of autosomal dominant kidney disease characterized by renal tubular Fanconi syndrome early in life followed by progression to renal glomerular failure in mid-adulthood. All patients show monoallelic mutations in the gene GATM. 4 heterozygous missense mutations of evolutionary conserved amino acid residues in GATM were found (c.958C>T, p.P320S; c.1006A>G, p.T336A; c.1007C>T, p.T336I;
c.1022C>T, p.P341L). In each family, one variant segregated with the disorder and was fully penetrant. In silico analysis showed that the particular GATM mutations create an additional interaction interface within the GATM protein and likely cause the linear aggregation of GATM observed in patient biopsy specimens and cultured proximal tubule cells.
Renal tubulopathies v1.81 GATM Eleanor Williams Phenotypes for gene: GATM were changed from to Renal fanconi syndrome and kidney failure (no MIM number); Cerebral creatine deficiency syndrome 3, 612718 (AR)
Renal tubulopathies v1.80 GATM Eleanor Williams Publications for gene: GATM were set to
Renal tubulopathies v1.16 GATM Eleanor Williams reviewed gene: GATM: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: Reichold et al 2018 J Am Soc Nephrol 29(7): 1849-1858. PMID: 29654216; Phenotypes: Renal fanconi syndrome and kidney failure (no MIM number), Cerebral creatine deficiency syndrome 3, MIM 612718 (AR); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Renal tubulopathies v1.15 GATM Eleanor Williams gene: GATM was added
gene: GATM was added to Renal tubulopathies. Sources: NHS GMS
Mode of inheritance for gene: GATM was set to