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Fetal anomalies

Gene: SLC6A17

Red List (low evidence)

SLC6A17 (solute carrier family 6 member 17)
EnsemblGeneIds (GRCh38): ENSG00000197106
EnsemblGeneIds (GRCh37): ENSG00000197106
OMIM: 610299, Gene2Phenotype
SLC6A17 is in 3 panels

1 review

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

Mental retardation, autosomal recessive 48 not presenting antenatally. Not suitable for fetal anomalies panel.
Created: 14 Jan 2022, 3:57 a.m. | Last Modified: 14 Jan 2022, 3:57 a.m.
Panel Version: 0.2191

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Mental retardation, autosomal recessive 48, MIM# 616269
OMIM
610299
Clinvar variants
Variants in SLC6A17
Penetrance
None
Panels with this gene

History Filter Activity

20 Jan 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc6a17 has been classified as Red List (Low Evidence).

20 Jan 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC6A17 were changed from MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48 to Mental retardation, autosomal recessive 48, MIM# 616269

14 Jan 2022, Gel status: 1

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: slc6a17 has been classified as Red List (Low Evidence).

24 Oct 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC6A17 was added gene: SLC6A17 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SLC6A17 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC6A17 were set to MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48