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  2. Ataxia and cerebellar anomalies - narrow panel
  3. SLC9A1
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Ataxia and cerebellar anomalies - narrow panel

Gene: SLC9A1

Green List (high evidence)
SLC9A1 (solute carrier family 9 member A1)
EnsemblGeneIds (GRCh38): ENSG00000090020
EnsemblGeneIds (GRCh37): ENSG00000090020
OMIM: 107310, Gene2Phenotype
SLC9A1 is in 3 panels

3 reviews

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 5 Feb 2023, 5:18 p.m. | Last Modified: 5 Feb 2023, 5:18 p.m.
Panel Version: 3.30
Created: 5 Feb 2023, 5:18 p.m.
Last Modified: 5 Feb 2023, 5:18 p.m.
Panel version: 3.30

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Based on GMS review of SLC9A1 on the Hereditary ataxia - adult onset panel.
Created: 26 May 2021, 12:04 p.m. | Last Modified: 26 May 2021, 12:04 p.m.
Panel Version: 2.190
Created: 26 May 2021, 12:04 p.m.
Last Modified: 26 May 2021, 12:04 p.m.
Panel version: 2.190

Zornitza Stark (Australian Genomics)

I don't know

Two families with bi-allelic variants in this gene reported and combination of deafness and ataxia.
Sources: Expert list
Created: 13 Sep 2020, 6:33 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lichtenstein-Knorr syndrome, MIM# 616291

Publications

Created: 13 Sep 2020, 6:33 a.m.

Panel version: 2.12

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Lichtenstein-Knorr syndrome OMIM:616291
  • Lichtenstein-Knorr syndrome MONDO:0014572
OMIM
107310
Clinvar variants
Variants in SLC9A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Feb 2023, Gel status: 3

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag Q2_21_rating was removed from gene: SLC9A1.

5 Feb 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Green was added to SLC9A1. Source NHS GMS was added to SLC9A1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

26 May 2021, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: SLC9A1.

26 May 2021, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: slc9a1 has been classified as Amber List (Moderate Evidence).

26 May 2021, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: SLC9A1 were changed from Lichtenstein-Knorr syndrome, MIM# 616291 to Lichtenstein-Knorr syndrome OMIM:616291; Lichtenstein-Knorr syndrome MONDO:0014572

13 Sep 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: SLC9A1 was added gene: SLC9A1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list Mode of inheritance for gene: SLC9A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC9A1 were set to 25205112; 30018422; 25760855 Phenotypes for gene: SLC9A1 were set to Lichtenstein-Knorr syndrome, MIM# 616291 Review for gene: SLC9A1 was set to AMBER