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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

Clare Hunt (Victorian Clinical Genetics Services)

Green List (high evidence)

SLC5A7, HGNC:14025. From OMIM; biallelic variants causes congenital myasthenic syndrome-20, an autosomal recessive neuromuscular disorder characterized by severe hypotonia associated with episodic apnea soon after birth. Patients have muscle weakness resulting in delayed walking, ptosis, poor sucking and swallowing, and generalized limb fatigability and weakness. Severe antenatal form has been described (see PMID:31299140).
More than 5 unrelated families reported.
Created: 3 Feb 2025, 6:50 a.m. | Last Modified: 3 Feb 2025, 6:50 a.m.
Panel Version: 1.1397

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myasthenic syndrome, congenital, 20, presynaptic, MIM# 617143

Publications

Created: 3 Feb 2025, 6:50 a.m.
Last Modified: 3 Feb 2025, 6:50 a.m.
Panel version: 1.1397

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Myasthenic syndrome, congenital, 20, presynaptic, MIM# 617143
OMIM
608761
Clinvar variants
Variants in SLC5A7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Feb 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc5a7 has been classified as Green List (High Evidence).

4 Feb 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC5A7 were changed from Myasthenic syndrome, congenital, 20, presynaptic, 617143 (3), Autosomal recessive to Myasthenic syndrome, congenital, 20, presynaptic, MIM# 617143

4 Feb 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC5A7 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC5A7 was added gene: SLC5A7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SLC5A7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC5A7 were set to Myasthenic syndrome, congenital, 20, presynaptic, 617143 (3), Autosomal recessive