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Mendeliome

Gene: SLC5A6

Green List (high evidence)

SLC5A6 (solute carrier family 5 member 6)
EnsemblGeneIds (GRCh38): ENSG00000138074
EnsemblGeneIds (GRCh37): ENSG00000138074
OMIM: 604024, Gene2Phenotype
SLC5A6 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PMID 35013551: 5 individuals from 3 unrelated families reported with predominantly neuropathy phenotype.
Created: 7 Jun 2022, 2:50 a.m. | Last Modified: 7 Jun 2022, 2:50 a.m.
Panel Version: 1.61
Complex neurodegenerative disorder: Two unrelated families reported, functional data and some evidence of response to treatment.
Sources: Literature
Created: 30 Dec 2019, 9:32 p.m. | Last Modified: 7 Jun 2022, 2:50 a.m.
Panel Version: 1.61

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Peripheral motor neuropathy, childhood-onset, biotin-responsive, MIM# 619903; Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Peripheral motor neuropathy, childhood-onset, biotin-responsive, MIM# 619903
  • Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973
OMIM
604024
Clinvar variants
Variants in SLC5A6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Jun 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC5A6 were changed from Developmental delay; epilepsy; neurodegeneration; Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973 to Peripheral motor neuropathy, childhood-onset, biotin-responsive, MIM# 619903; Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973

7 Jun 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC5A6 were set to 31754459; 27904971

9 Aug 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC5A6 were changed from Developmental delay; epilepsy; neurodegeneration to Developmental delay; epilepsy; neurodegeneration; Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973

30 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc5a6 has been classified as Green List (High Evidence).

30 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc5a6 has been classified as Green List (High Evidence).

30 Dec 2019, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC5A6 was added gene: SLC5A6 was added to Mendeliome_VCGS. Sources: Literature Mode of inheritance for gene: SLC5A6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC5A6 were set to 31754459; 27904971 Phenotypes for gene: SLC5A6 were set to Developmental delay; epilepsy; neurodegeneration Review for gene: SLC5A6 was set to GREEN