Hereditary Neuropathy_CMT - isolated

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)

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.

Note bi-allelic variants are associated with congenital myasthenic syndrome.
Created: 13 May 2021, 10:20 a.m. | Last Modified: 13 May 2021, 10:20 a.m.
Panel Version: 0.165

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neuronopathy, distal hereditary motor, type VIIA, MIM# 158580; MONDO:0008024

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Neuronopathy, distal hereditary motor, type VIIA, MIM# 158580
  • MONDO:0008024
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 Neuronopathy, distal hereditary motor, type VIIA to Neuronopathy, distal hereditary motor, type VIIA, MIM# 158580; MONDO:0008024

13 May 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC5A7 were set to

13 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: SLC5A7 was added gene: SLC5A7 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: SLC5A7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SLC5A7 were set to Neuronopathy, distal hereditary motor, type VIIA