Renal tubulopathies
Gene: ATP1A1
Comment on list classification: Promoting red to green as there are 3 cases plus some functional data.Created: 4 Sep 2019, 3:43 p.m. | Last Modified: 4 Sep 2019, 3:43 p.m.
Panel Version: 1.90
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 systemCreated: 29 Aug 2019, 4:07 p.m. | Last Modified: 29 Aug 2019, 4:07 p.m.
Panel Version: 1.82
This gene was part of an initial gene list collated by Emma Ashton (NE Thames Regional Genetics laboratory, GOSH NHS Foundation Trust) January 2019 on behalf of the GMS Renal Specialist Test Group; Gene Symbol submitted: ATP1A1; Suggested initial gene rating: green; Evidence for inclusion: Schlingmann et al 2018 Am J Hum Genet 103 (5) 808-816. PMID: 30388404, 3 families, all de novo;Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none providedCreated: 3 Feb 2019, 11:32 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Renal hypomagnesemia, refractory seizures and intellectual disability (no OMIM number); Charcot-Marie-Tooth disease, axonal, type 2DD, MIM 618036
Publications
Gene: atp1a1 has been classified as Green List (High Evidence).
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
Mode of inheritance for gene: ATP1A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
Publications for gene: ATP1A1 were set to
gene: ATP1A1 was added gene: ATP1A1 was added to Renal tubulopathies. Sources: NHS GMS Mode of inheritance for gene: ATP1A1 was set to