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  3. SLC4A1
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Anaemias and red cell disorders

Gene: SLC4A1

Red List (low evidence)
SLC4A1 (solute carrier family 4 member 1 (Diego blood group))
EnsemblGeneIds (GRCh38): ENSG00000004939
EnsemblGeneIds (GRCh37): ENSG00000004939
OMIM: 109270, Gene2Phenotype
SLC4A1 is in 9 panels

1 review

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
RBC membrane abnormality; Cryohydrocytosis; Ovalocytosis; Spherocytosis

Variants in this GENE are reported as part of current diagnostic practice

Created: 16 Jan 2017, 3:47 p.m.

Panel version: 0.9

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Hemolytic Anemia
OMIM
109270
Clinvar variants
Variants in SLC4A1
Penetrance
Complete
Panels with this gene

History Filter Activity

22 Jul 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SLC4A1 was created by ellenmcdonagh

22 Jul 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC4A1 was added to Anaemias and red cell disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services