1. Panels
  2. Optic Atrophy
  3. SLC44A1
STRs in panel
Prev Next
Regions in panel
Prev Next

Optic Atrophy

Gene: SLC44A1

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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, 10:03 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Childhood onset degeneration; progressive ataxia; tremor; cognitive decline; dysphagia; optic atrophy; dysarthria

Publications

Created: 20 Apr 2020, 10:03 a.m.

Panel version: 0.100

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Childhood onset degeneration
  • 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: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc44a1 has been classified as Green List (High Evidence).

20 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc44a1 has been classified as Green List (High Evidence).

20 Apr 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC44A1 was added gene: SLC44A1 was added to Optic Atrophy. 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 Childhood onset degeneration; progressive ataxia; tremor; cognitive decline; dysphagia; optic atrophy; dysarthria Review for gene: SLC44A1 was set to GREEN