This Panel is marked as Internal
Neuromuscular arthrogryposis
Gene: SLC5A7
SLC5A7 (solute carrier family 5 member 7)
EnsemblGeneIds (GRCh38): ENSG00000115665
EnsemblGeneIds (GRCh37): ENSG00000115665
OMIM: 608761, Gene2Phenotype
SLC5A7 is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000115665
EnsemblGeneIds (GRCh37): ENSG00000115665
OMIM: 608761, Gene2Phenotype
SLC5A7 is in 8 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Review and rating from Michael Oldridge (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust), submitted by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 28 Apr 2019, 6:36 p.m.
Michael Oldridge (NHS)
one familyCreated: 28 Apr 2019, 6:34 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Amber
- Wessex and West Midlands GLH
- OMIM
- 608761
- Clinvar variants
- Variants in SLC5A7
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
16 May 2019, Gel status: 2
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to SLC5A7.
28 Apr 2019, Gel status: 2
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Amber was added to SLC5A7. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
28 Apr 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications
Louise Daugherty (Genomics England Curator)gene: SLC5A7 was added gene: SLC5A7 was added to Neuromuscular arthrogryposis. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: SLC5A7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC5A7 were set to 27569547