Ataxia - paediatric
Gene: SLC9A1EnsemblGeneIds (GRCh38): ENSG00000090020
EnsemblGeneIds (GRCh37): ENSG00000090020
OMIM: 107310, Gene2Phenotype
SLC9A1 is in 3 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Two families with bi-allelic variants in this gene reported and combination of deafness and ataxia.Created: 17 Apr 2020, 12:27 a.m. | Last Modified: 17 Apr 2020, 12:27 a.m.
Panel Version: 0.140
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lichtenstein-Knorr syndrome, MIM# 616291
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Royal Melbourne Hospital
- Phenotypes
-
- Lichtenstein-Knorr Syndrome, MIM# 616291
- OMIM
- 107310
- Clinvar variants
- Variants in SLC9A1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc9a1 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SLC9A1 were changed from Lichtenstein-Knorr Syndrome to Lichtenstein-Knorr Syndrome, MIM# 616291
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: SLC9A1 were set to
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc9a1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: SLC9A1 was added gene: SLC9A1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: SLC9A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC9A1 were set to Lichtenstein-Knorr Syndrome