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Hereditary ataxia with onset in adulthood
Gene: SLC9A1

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

5 reviews

Sarah Leigh (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 9 Mar 2022, 5:26 p.m. | Last Modified: 9 Mar 2022, 5:26 p.m.

Panel Version: 2.144

The tag Q2_21_phenotype has been added to this gene, because variants in this gene are associated with childhood onset phenotype.
Created: 26 May 2021, 11:58 a.m. | Last Modified: 26 May 2021, 11:58 a.m.

Panel Version: 2.70

Created: 26 May 2021, 11:58 a.m.
Last Modified: 26 May 2021, 11:58 a.m.
Panel version: 2.144

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Onset was in early childhood in the two families reported with molecularly confirmed diagnosis.
Created: 13 Sep 2020, 6:37 a.m. | Last Modified: 13 Sep 2020, 6:37 a.m.

Panel Version: 2.9

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lichtenstein-Knorr syndrome, MIM# 616291

Publications

Created: 13 Sep 2020, 6:37 a.m.
Last Modified: 13 Sep 2020, 6:37 a.m.
Panel version: 2.9

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

More than 3 families. Cerebellar ataxia and sensorineural deafness. Not on Ox or Shef.
Created: 27 Apr 2019, 7:39 p.m.

Created: 27 Apr 2019, 7:39 p.m.

Panel version: 1.11

Louise Daugherty (Genomics England Curator)

I don't know

As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Created: 1 Aug 2019, 3:43 p.m. | Last Modified: 1 Aug 2019, 3:43 p.m.

Panel Version: 1.188

Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group

Created: 27 Apr 2019, 8:55 p.m.

Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 15 Apr 2019, 10:21 a.m.

Created: 15 Apr 2019, 10:21 a.m.

Panel version: 1.188

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

Looks like two families in the literature, one with a homozygous missense variant with limited functional evidence, the second with a homozygous truncating mutation but a somewhat disparate phenotype (limited to cerebellar ataxia only). Do not think sufficient evidence for Green at this time
Created: 15 Apr 2019, 10:06 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lichtenstein-Knorr Syndrome

Created: 15 Apr 2019, 10:06 a.m.

Panel version: 1.7

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
London North GLH
NHS GMS
Wessex and West Midlands GLH

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

9 Mar 2022, Gel status: 2

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag Q2_21_phenotype was removed from gene: SLC9A1.

9 Mar 2022, Gel status: 2

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

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

26 May 2021, Gel status: 3

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_21_phenotype tag was added to gene: SLC9A1.

26 May 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

26 May 2021, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: SLC9A1 were set to

1 Aug 2019, Gel status: 3