Alternating Hemiplegia and Hemiplegic Migraine

Gene: SLC4A4

Green List (high evidence)

SLC4A4 (solute carrier family 4 member 4)
EnsemblGeneIds (GRCh38): ENSG00000080493
EnsemblGeneIds (GRCh37): ENSG00000080493
OMIM: 603345, Gene2Phenotype
SLC4A4 is in 10 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

At least 3 homozygous cases/families (1 isolated case & 2 consanguineous families) with hemiplegic migraine along with renal tubular acidosis, and supporting functional evidence demonstrating loss of protein activity. An additional 3 homozygous cases also reported with migraine with or without aura.
Sources: Literature
Created: 4 Jun 2021, 6:24 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Renal tubular acidosis, proximal, with ocular abnormalities MIM#604278; hemiplegic migraine

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Renal tubular acidosis, proximal, with ocular abnormalities MIM#604278
  • hemiplegic migraine
OMIM
603345
Clinvar variants
Variants in SLC4A4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: slc4a4 has been classified as Green List (High Evidence).

4 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: slc4a4 has been classified as Green List (High Evidence).

4 Jun 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: SLC4A4 was added gene: SLC4A4 was added to Alternating Hemiplegia and Hemiplegic Migraine. Sources: Literature Mode of inheritance for gene: SLC4A4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC4A4 were set to 20798035; 33439394 Phenotypes for gene: SLC4A4 were set to Renal tubular acidosis, proximal, with ocular abnormalities MIM#604278; hemiplegic migraine Review for gene: SLC4A4 was set to GREEN