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Structural eye disease

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 6 panels

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Green List (high evidence)

FC - eye phenotypes can include corneal opacities, keratopathy, cataracts and glaucoma. If this is considered a structural eye defects, then three families with homozygous missense mutations are listed in PubMed: 10545938;29671668. Igarashi (1999): two families with childhood onset glaucoma; Igarashi (2001): one family with childhood onset glaucoma
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Renal tubular acidosis, proximal, with ocular abnormalities; 604278

Publications

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). FC - eye phenotypes can include corneal opacities, keratopathy, cataracts and glaucoma. If this is considered a structural eye defects, then three families with homozygous missense mutations are listed in PubMed: 10545938;29671668. Igarashi (1999): two families with childhood onset glaucoma; Igarashi (2001): one family with childhood onset glaucoma
Created: 17 Apr 2019, 3:31 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Renal tubular acidosis, proximal, with ocular abnormalities; 604278

Publications

Details

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

History Filter Activity

17 Apr 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: SLC4A4 was added gene: SLC4A4 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: SLC4A4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC4A4 were set to 10545938; 11274232 Phenotypes for gene: SLC4A4 were set to Renal tubular acidosis, proximal, with ocular abnormalities, 604278