Arthrogryposis
Gene: SLC52A3
SLC52A3 (solute carrier family 52 member 3)
EnsemblGeneIds (GRCh38): ENSG00000101276
EnsemblGeneIds (GRCh37): ENSG00000101276
OMIM: 613350, Gene2Phenotype
SLC52A3 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000101276
EnsemblGeneIds (GRCh37): ENSG00000101276
OMIM: 613350, Gene2Phenotype
SLC52A3 is in 15 panels
1 review
Alice Gardham (Genomics England)
Comment when marking as ready: No known association with arthrogryposisCreated: 22 Dec 2016, 3:10 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Expert list
- OMIM
- 613350
- Clinvar variants
- Variants in SLC52A3
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- DDG2P
- Monogenic hearing loss
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Adult onset neurodegenerative disorder
- Hereditary neuropathy or pain disorder
- Possible mitochondrial disorder - nuclear genes
- Mitochondrial disorders
- Paediatric motor neuronopathies
- Likely inborn error of metabolism
- Amyotrophic lateral sclerosis/motor neuron disease
- Hereditary neuropathy
- Fetal anomalies
- Arthrogryposis
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.
22 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).
22 Dec 2016, Gel status: 0
Set Mode of Inheritance
Alice Gardham (Genomics England)Mode of inheritance for SLC52A3 was changed to BIALLELIC, autosomal or pseudoautosomal
21 Dec 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)SLC52A3 was added to Arthrogryposispanel. Sources: Expert list
21 Dec 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)SLC52A3 was created by ellenmcdonagh