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Intellectual disability syndromic and non-syndromic

Gene: SLC44A1

Red List (low evidence)

SLC44A1 (solute carrier family 44 member 1)
EnsemblGeneIds (GRCh38): ENSG00000070214
EnsemblGeneIds (GRCh37): ENSG00000070214
OMIM: 606105, Gene2Phenotype
SLC44A1 is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Progressive neurodegenerative disorder rather than true intellectual disability. The first characteristic neurological abnormalities were noted between the ages of 2–8 years. Cardinal features included tremor, dysarthria, swallowing difficulties, ataxia, truncal muscle weakness, strabismus, and decreased visual acuity.
Created: 20 Apr 2020, 10:17 a.m. | Last Modified: 20 Apr 2020, 10:17 a.m.
Panel Version: 0.2545

Sebastian Lunke (Victorian Clinical Genetics Services)

Green List (high evidence)

Four affected individuals from three families with homozygous frameshift variants. Functional evidence points to impaired choline transporter function yet unchanged membrane phosphatidylcholine content. Choline treatments may be beneficial.
Sources: Literature
Created: 20 Apr 2020, 4:36 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
progressive ataxia; tremor; cognitive decline; dysphagia; optic atrophy; dysarthria

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • progressive ataxia
  • tremor
  • cognitive decline
  • dysphagia
  • optic atrophy
  • dysarthria
OMIM
606105
Clinvar variants
Variants in SLC44A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc44a1 has been classified as Red List (Low Evidence).

20 Apr 2020, Gel status: 1

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

Sebastian Lunke (Victorian Clinical Genetics Services)

gene: SLC44A1 was added gene: SLC44A1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: SLC44A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC44A1 were set to 31855247 Phenotypes for gene: SLC44A1 were set to progressive ataxia; tremor; cognitive decline; dysphagia; optic atrophy; dysarthria Review for gene: SLC44A1 was set to GREEN gene: SLC44A1 was marked as current diagnostic