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BabyScreen+ newborn screening

Gene: SLC4A1

Green List (high evidence)
SLC4A1 (solute carrier family 4 member 1 (Diego blood group))
EnsemblGeneIds (GRCh38): ENSG00000004939
EnsemblGeneIds (GRCh37): ENSG00000004939
OMIM: 109270, Gene2Phenotype
SLC4A1 is in 8 panels

1 review

Seb Lunke (Victorian Clinical Genetics Services)

Green List (high evidence)

Established gene-disease association.

Childhood onset, metabolic condition

Treatment: oral alkali replacement therapy, potassium chloride. Not clear if treatment equally applicable to dominant and recessive forms of disease

Non-genetic confirmatory test: serum bicarbonate, chloride, potassium, urinary pH and anion gap
Created: 12 Dec 2022, 6:41 a.m. | Last Modified: 12 Dec 2022, 6:41 a.m.
Panel Version: 0.1341

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Distal renal tubular acidosis 4 with haemolytic anaemia MIM# 611590

Publications

Created: 12 Dec 2022, 6:41 a.m.
Last Modified: 12 Dec 2022, 6:41 a.m.
Panel version: 0.1341

Details

Mode of Inheritance
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
OMIM
109270
Clinvar variants
Variants in SLC4A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Dec 2022, Gel status: 3

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: SLC4A1. Tag renal tag was added to gene: SLC4A1.

12 Dec 2022, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: slc4a1 has been classified as Green List (High Evidence).

12 Dec 2022, Gel status: 3

Added Tag

Seb Lunke (Victorian Clinical Genetics Services)

Tag for review tag was added to gene: SLC4A1.

12 Dec 2022, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Phenotypes for gene: SLC4A1 were changed from Spherocytosis to Distal renal tubular acidosis 4 with haemolytic anaemia MIM# 611590

12 Dec 2022, Gel status: 3

Set publications

Seb Lunke (Victorian Clinical Genetics Services)

Publications for gene: SLC4A1 were set to

12 Dec 2022, Gel status: 3

Set mode of inheritance

Seb Lunke (Victorian Clinical Genetics Services)

Mode of inheritance for gene: SLC4A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal

18 Sep 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC4A1 was added gene: SLC4A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SLC4A1 were set to Spherocytosis