Neuromuscular arthrogryposis

Gene: SLC5A7

Amber List (moderate evidence)

SLC5A7 (solute carrier family 5 member 7)
EnsemblGeneIds (GRCh38): ENSG00000115665
EnsemblGeneIds (GRCh37): ENSG00000115665
OMIM: 608761, Gene2Phenotype
SLC5A7 is in 10 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

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)

I don't know

one family
Created: 28 Apr 2019, 6:34 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Details

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