Structural eye disease
Gene: SLC4A4
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 glaucomaCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Renal tubular acidosis, proximal, with ocular abnormalities; 604278
Publications
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 glaucomaCreated: 17 Apr 2019, 3:31 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Renal tubular acidosis, proximal, with ocular abnormalities; 604278
Publications
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