Renal Tubulopathies and related disorders
Gene: SLC4A4EnsemblGeneIds (GRCh38): ENSG00000080493
EnsemblGeneIds (GRCh37): ENSG00000080493
OMIM: 603345, Gene2Phenotype
SLC4A4 is in 10 panels
1 review
Chirag Patel (Genetic Health Queensland)
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.Created: 2 Dec 2022, 12:30 a.m. | Last Modified: 2 Dec 2022, 12:30 a.m.
Panel Version: 0.17
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
- KidGen_Tubulopathies v38.1.0
- Phenotypes
-
- Hemiplegic migraine
- Renal tubular acidosis, proximal, with ocular abnormalities, MIM# 604278
- OMIM
- 603345
- Clinvar variants
- Variants in SLC4A4
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Mendeliome
- BabyScreen+ newborn screening
- Alternating Hemiplegia and Hemiplegic Migraine
- Renal Tubulopathies and related disorders
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SLC4A4 was added gene: SLC4A4 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Tubulopathies v38.1.0,Expert Review Green Mode of inheritance for gene: SLC4A4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC4A4 were set to 29914390; 10545938; 11274232; 35260236; 33439394 Phenotypes for gene: SLC4A4 were set to Hemiplegic migraine; Renal tubular acidosis, proximal, with ocular abnormalities, MIM# 604278