SLC4A4

solute carrier family 4 member 4
OMIM: 603345, ClinGen, DECIPHER

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 1.0	1 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 2.0	1 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 2.0	1 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 2.0	1 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 1.0	0 reviews	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 1.0	0 reviews	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 2.0	1 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 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Renal tubular acidosis, proximal, with ocular abnormalities, MIM#604278
Red SLC4A4 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	1 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 2.0	1 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