Arthrogryposis
Gene: ATP2A1
ATP2A1 (ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1)
EnsemblGeneIds (GRCh38): ENSG00000196296
EnsemblGeneIds (GRCh37): ENSG00000196296
OMIM: 108730, Gene2Phenotype
ATP2A1 is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000196296
EnsemblGeneIds (GRCh37): ENSG00000196296
OMIM: 108730, Gene2Phenotype
ATP2A1 is in 6 panels
1 review
Alice Gardham (Genomics England)
Comment on list classification: Not associated with arthrogryposisCreated: 21 Dec 2016, 3:06 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Brody Myopathy
- Brody myopathy, 601003
- OMIM
- 108730
- Clinvar variants
- Variants in ATP2A1
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
16 Jan 2017, Gel status: 1
panel promoted to version 2
Ellen McDonagh (Genomics England Curator)16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
21 Dec 2016, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
21 Dec 2016, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
21 Dec 2016, Gel status: 3
Added New Source
Ellen McDonagh (Genomics England Curator)ATP2A1 was added to Arthrogryposispanel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen
21 Dec 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)ATP2A1 was created by ellenmcdonagh