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Fetal anomalies

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

1 review

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for Congenital Myasthenic Syndrome with Episodic Apnea
Created: 11 Dec 2018, 9:05 a.m.
In the original PAGE file, MOP listed as All missense/in frame.
Created: 8 Nov 2018, 4:45 p.m.

Mode of pathogenicity
Other - please provide details in the comments

Details

History Filter Activity

8 Nov 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: SLC5A7 was added gene: SLC5A7 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SLC5A7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC5A7 were set to Congenital Myasthenic Syndrome with Episodic Apnea