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Mendeliome

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mono-allelic variants: Distal hereditary motor neuronopathy type VIIa is an autosomal dominant neurologic disorder characterized by onset in the second decade of progressive distal muscle wasting and weakness affecting the upper and lower limbs and resulting in walking difficulties and hand grip. There is significant muscle atrophy of the hands and lower limbs. The disorder is associated with vocal cord paresis due to involvement of the tenth cranial nerve. At least 3 unrelated families reported, animal model.

Bi-allelic variants: More than 7 unrelated families reported with myasthenic syndrome.
Created: 13 May 2021, 10:23 a.m. | Last Modified: 13 May 2021, 10:23 a.m.
Panel Version: 0.7612

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Neuronopathy, distal hereditary motor, type VIIA, MIM# 158580; MONDO:0008024; Myasthenic syndrome, congenital, 20, presynaptic, MIM# 617143

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Neuronopathy, distal hereditary motor, type VIIA, MIM# 158580
  • MONDO:0008024
  • Myasthenic syndrome, congenital, 20, presynaptic, MIM# 617143
OMIM
608761
Clinvar variants
Variants in SLC5A7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 May 2021, 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).

13 May 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC5A7 were changed from to Neuronopathy, distal hereditary motor, type VIIA, MIM# 158580; MONDO:0008024; Myasthenic syndrome, congenital, 20, presynaptic, MIM# 617143

13 May 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC5A7 were set to

13 May 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SLC5A7 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC5A7 was added gene: SLC5A7 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SLC5A7 was set to Unknown