SLC4A1

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

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
No list SLC4A1 in Fetal hydrops Level 3: Fetal disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.64	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes Nonimmune hydrops fetalis
Green SLC4A1 in Nephrocalcinosis or nephrolithiasis Level 3: Disorders of function Level 2: Renal and urinary tract disorders Version 4.13 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Renal superpanel - broad Renal superpanel - narrow	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Eligibility statement prior genetic testing Expert Phenotypes distal renal tubular acidosis Renal tubular acidosis, distal, AD, 179800 Renal tubular acidosis, distal, AR 611590
Red SLC4A1 in Ductal plate malformation Version 1.29	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen, Expert list Phenotypes Renal tubular acidosis, distal, AR (611590) Renal tubular acidosis, distal, AD (179800)
Green SLC4A1 in Cytopenias and congenital anaemias Level 3: Anaemias and red cell disorders Level 2: Haematological disorders Version 1.118	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Phenotypes Haemolytic Anemia RBC membrane abnormality Cryohydrocytosis,185020 Ovalocytosis, SA type, 166900 Spherocytosis, type 4, 612653
Green SLC4A1 in Rare anaemia Version 3.8 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources North West GLH Yorkshire and North East GLH London South GLH NHS GMS Expert Review Green Wessex and West Midlands GLH Phenotypes 612653 Spherocytosis, type 4 Ovalocytosis, SA type, 166900 166900 Ovalocytosis, SA type, 185020 Cryohydrocytosis Spherocytosis, type 4, 612653 Cryohydrocytosis,185020 RBC membrane abnormality Haemolytic Anemia 166900 Ovalocytosis, SA type
Green SLC4A1 in Unexplained young onset end-stage renal disease Version 4.3 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Renal superpanel - broad	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Renal tubular acidosis, distal, AR 611590 distal renal tubular acidosis Renal tubular acidosis, distal, AD, 179800
Red SLC4A1 in Fetal anomalies Version 4.1 Latest signed off version: v4.0 (1 May 2024)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes RENAL TUBULAR ACIDOSIS, DISTAL, AR RENAL TUBULAR ACIDOSIS, DISTAL, AD
Green SLC4A1 in DDG2P Version 4.3 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes RENAL TUBULAR ACIDOSIS, DISTAL, AD 179800 RENAL TUBULAR ACIDOSIS, DISTAL, AR 611590
Green SLC4A1 in Renal tubulopathies Level 3: Disorders of function Level 2: Renal and urinary tract disorders Version 4.17 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Renal superpanel - broad Renal superpanel - narrow	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Eligibility statement prior genetic testing Expert Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Distal Renal Tubular Acidosis, Dominant Ovalocytosis Distal renal tubular acidosis Renal tubular acidosis, distal, AD,179800 Renal tubular acidosis, distal, AR, 611590 Cryohydrocytosis, 185020 Ovalocystois, SA type 166900 Spherocytoisis type 4, 612653 various blood group associations.
Amber SLC4A1 in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 6.12 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Ovalocytosis Spherocytosis, type 4, 612653 [Malaria, resistance to], 611162 Renal tubular acidosis, distal, AD, 179800 Renal tubular acidosis, distal, AR, 611590 [Blood group, Diego], 110500 [Blood group, Waldner], 112010 [Blood group, Wright], 112050 [Blood group, Froese], 601551 [Blood group, Swann], 601550
Red SLC4A1 in Groopman et al 2019 - Genes with diagnostic variants Version 0.8	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Expert review red Literature Phenotypes Tubulointerstitial disease Renal tubular acidosis distal, autosomal dominant MIM 179800
Green SLC4A1 in Severe Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Renal tubular acidosis, distal, AR, 611590 Cryohydrocytosis, 185020 Spherocytosis, type 4, 612653 Ovalocytosis, SA type, 166900 Renal tubular acidosis, distal, AD, 179800