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Regression

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)

Two unrelated families reported, functional data and some evidence of response to treatment.
Sources: Literature
Created: 30 Dec 2019, 9:25 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Developmental delay; epilepsy; neurodegeneration; Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973

Publications

Created: 30 Dec 2019, 9:25 p.m.

Panel version: 0.129

Details

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

History Filter Activity

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 Regression_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