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| Renal tubulopathies v1.90 | ATP1A1 | Eleanor Williams Classified gene: ATP1A1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.90 | ATP1A1 | Eleanor Williams Added comment: Comment on list classification: Promoting red to green as there are 3 cases plus some functional data. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.90 | ATP1A1 | Eleanor Williams Gene: atp1a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.89 | ATP1A1 | Eleanor Williams Phenotypes for gene: ATP1A1 were changed from Renal hypomagnesemia, refractory seizures and intellectual disability (no OMIM number); Charcot-Marie-Tooth disease, axonal, type 2DD, 618036 to Hypomagnesemia, seizures, and mental retardation 2 618314; Charcot-Marie-Tooth disease, axonal, type 2DD, 618036 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.88 | ATP1A1 | Eleanor Williams Mode of inheritance for gene: ATP1A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.82 | ATP1A1 |
Eleanor Williams commented on gene: ATP1A1: Associated with Hypomagnesemia, seizures, and mental retardation 2 (#618314) in OMIM. PMID: 30388404 - Schlingmann et al 2018 - describe 3 unrelated infants who are from non-consanguineous families and who presented with a disease phenotype consisting of generalized seizures in infancy, severe hypomagnesemia, and renal magnesium wasting. Whole-exome sequencing and conventional Sanger sequencing identified heterozygous de novo mutations in ATP1A1 (p.Leu302Arg, p.Gly303Arg, p.Met859Arg). Functional studies show the critical role of the α1 subunit of Na+, K+-ATPase for the maintenance of ionic gradients, the generation of resting membrane potential, and the termination of neuronal activity in the central nervous system |
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| Renal tubulopathies v1.74 | ATP1A1 | Eleanor Williams Phenotypes for gene: ATP1A1 were changed from to Renal hypomagnesemia, refractory seizures and intellectual disability (no OMIM number); Charcot-Marie-Tooth disease, axonal, type 2DD, 618036 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.73 | ATP1A1 | Eleanor Williams Publications for gene: ATP1A1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.16 | ATP1A1 | Eleanor Williams reviewed gene: ATP1A1: Rating: GREEN; Mode of pathogenicity: ; Publications: Schlingmann et al 2018 Am J Hum Genet 103 (5) 808-816. PMID: 30388404; Phenotypes: Renal hypomagnesemia, refractory seizures and intellectual disability (no OMIM number), Charcot-Marie-Tooth disease, axonal, type 2DD, MIM 618036; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.15 | ATP1A1 |
Eleanor Williams gene: ATP1A1 was added gene: ATP1A1 was added to Renal tubulopathies. Sources: NHS GMS Mode of inheritance for gene: ATP1A1 was set to |
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