SLC4A1

solute carrier family 4 member 1 (Diego blood group)
OMIM: 109270, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green SLC4A1 in Mendeliome Version 1.1902	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cryohydrocytosis MIM# 185020 Distal renal tubular acidosis 4 with haemolytic anaemia MIM# 611590 Ovalocytosis, SA type MIM# 166900 Spherocytosis, type 4 MIM# 612653 Distal renal tubular acidosis 1 MIM# 179800
Green SLC4A1 in Calcium and Phosphate disorders Level 2: Renal and urinary tract disorders; Endocrine disorders Version 1.24	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes renal tubular acidosis, distal, 4, with hemolytic anemia MONDO:0012700
Green SLC4A1 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, distal, AR, 611590 (3)
Green SLC4A1 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Spherocytosis
Green SLC4A1 in Red cell disorders Level 2: Haematological disorders Version 1.24	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Yorkshire and North East GLH NHS GMS Wessex and West Midlands GLH North West GLH London South GLH Phenotypes Cryohydrocytosis MIM# 185020 Distal renal tubular acidosis 4 with haemolytic anaemia MIM# 611590 Ovalocytosis, SA type MIM# 166900 Spherocytosis, type 4 MIM# 612653
Green SLC4A1 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, distal, AR, 611590 (3)
Green SLC4A1 in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene Phenotypes Distal renal tubular acidosis 4 with haemolytic anaemia MIM# 611590 Tags for review treatable renal
Green SLC4A1 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	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_Tubulopathies v38.1.0 Expert Review Green KidGen_Tubulopathies v38.1.0 Phenotypes Distal renal tubular acidosis 4 with haemolytic anaemia, MIM# 611590 MONDO:0012700 MONDO:0008368 Distal renal tubular acidosis 1, MIM# 179800