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  3. SLC5A7
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Arthrogryposis

Gene: SLC5A7

Green List (high evidence)
SLC5A7 (solute carrier family 5 member 7)
EnsemblGeneIds (GRCh38): ENSG00000115665
EnsemblGeneIds (GRCh37): ENSG00000115665
OMIM: 608761, Gene2Phenotype
SLC5A7 is in 8 panels

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

Mutations identified in seven patients -two with arthrogryposis. Green after internal discussion
Created: 11 Jan 2017, 9:32 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myasthenic syndrome, congenital, 20, presynaptic 617143

Publications

Created: 11 Jan 2017, 9:32 a.m.

Panel version: 1.308

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Myasthenic syndrome, congenital, 20, presynaptic 617143
OMIM
608761
Clinvar variants
Variants in SLC5A7
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

16 Jan 2017, Gel status: 4

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.

11 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

11 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

11 Jan 2017, Gel status: 0

Added New Source

Alice Gardham (Genomics England)

SLC5A7 was added to Arthrogryposispanel. Sources: Literature

11 Jan 2017, Gel status: 0

Created

Alice Gardham (Genomics England)

SLC5A7 was created by agardham