1. Panels
  2. Non-Fanconi anaemia
  3. SLC4A1
STRs in panel
Prev Next
Regions in panel
Prev Next

Non-Fanconi anaemia

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

Mark Greenslade (Bristol Genetics Laboratory)

Red List (low evidence)

Does not meet clinical inclusion criteria.
Created: 16 Oct 2015, 1:18 p.m.

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

Created: 16 Oct 2015, 1:18 p.m.

Panel version: 0

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

30 Sep 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SLC4A1 was set to BIALLELIC, autosomal or pseudoautosomal

30 Sep 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC4A1 was added to Non-Fanconi anaemiapanel. Source: Illumina TruGenome Clinical Sequencing Services

30 Sep 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SLC4A1 was set to BIALLELIC, autosomal or pseudoautosomal

30 Sep 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC4A1 was added to Non-Fanconi anaemiapanel. Source: Illumina TruGenome Clinical Sequencing Services

15 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC4A1 was added to Non-Fanconi anaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services