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Cytopenias and congenital anaemias

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 10 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on list classification: Changed status to Green to Red from evidence in the literature.
Created: 27 Feb 2017, 12:10 p.m.
Comment on publications: Cryohydrocytosis PMID:16227998 (4 unrelated families); Ovalocytosis, SA type PMID: 8608262 (many affected in large 4 generation family), PMID 7949112, PMID:2146504, and PMID:1722314 (many affected reported in families from Malaysia, Philippines, and twounrelated coastal regions of Papua New Guinea).Spherocytosis, type 4 reported in many cases, for example, PMID:8471774 (1 affected), PMID:8282779 (3 generation family, 5 affecteds), PMID:8547122 (large family).
Created: 27 Feb 2017, 12:09 p.m.
Comment on mode of inheritance: changed MOI due to evidence in publications
Created: 27 Feb 2017, 11:44 a.m.

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

Details

Mode of Inheritance
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
OMIM
109270
Clinvar variants
Variants in SLC4A1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

11 Mar 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

27 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

27 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

27 Feb 2017, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for SLC4A1 were set to 16227998;8608262;7949112;2146504;1722314;8471774;8282779;8547122

27 Feb 2017, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for SLC4A1 were set to Cryohydrocytosis PMID:16227998 (4 unrelated families); Ovalocytosis, SA type PMID:

27 Feb 2017, Gel status: 1

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for SLC4A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

27 Feb 2017, Gel status: 1

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for SLC4A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

23 Feb 2017, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for SLC4A1 were set to Haemolytic Anemia; RBC membrane abnormality; Cryohydrocytosis,185020; Ovalocytosis, SA type, 166900; Spherocytosis, type 4, 612653

23 Feb 2017, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for SLC4A1 were set to Haemolytic Anemia; RBC membrane abnormality; Cryohydrocytosis,185020; Ovalocytosis, 166900; Spherocytosis, 612653

23 Feb 2017, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for SLC4A1 were set to Haemolytic Anemia;RBC membrane abnormality; Cryohydrocytosis,185020;Ovalocytosis, 166900; Spherocytosis 612653

17 Feb 2017, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

SLC4A1 was added to Cytopaenias and congenital anaemiaspanel. Sources: Illumina TruGenome Clinical Sequencing Services

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

SLC4A1 was created by LouiseD