SLC4A4

solute carrier family 4 member 4
OMIM: 603345, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green SLC4A4 in Alternating Hemiplegia and Hemiplegic Migraine Level 2: Neurology and neurodevelopmental disorders Version 0.57	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Renal tubular acidosis, proximal, with ocular abnormalities MIM#604278 hemiplegic migraine
Green SLC4A4 in Mendeliome Version 1.1902	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Renal tubular acidosis, proximal, with ocular abnormalities, MIM# 604278 Hemiplegic migraine
Red SLC4A4 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Phenotypes Renal tubular acidosis, proximal, with ocular abnormalities, MIM# 604278
Green SLC4A4 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Renal tubular acidosis, proximal, with ocular abnormalities MIM#604278
Green SLC4A4 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3)
Red SLC4A4 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Renal tubular acidosis, proximal, with ocular abnormalities
Red SLC4A4 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Renal tubular acidosis, proximal, with ocular abnormalities (MIM#604278)
Green SLC4A4 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3)
Red SLC4A4 in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Renal tubular acidosis, proximal, with ocular abnormalities, MIM# 604278 Tags for review
Green SLC4A4 in Renal Tubulopathies and related disorders Level 2: Renal and urinary tract disorders Version 1.14 Component of the following Super Panels: Kidneyome_SuperPanel	review	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