Cytopenias and congenital anaemias
Gene: SLC4A1EnsemblGeneIds (GRCh38): ENSG00000004939
EnsemblGeneIds (GRCh37): ENSG00000004939
OMIM: 109270, Gene2Phenotype
SLC4A1 is in 9 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 publicationsCreated: 27 Feb 2017, 11:44 a.m.
BRIDGE consortium (NIHRBR-RD)
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
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.
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Louise Daugherty (Genomics England Curator)Publications for SLC4A1 were set to 16227998;8608262;7949112;2146504;1722314;8471774;8282779;8547122
Set publications
Louise Daugherty (Genomics England Curator)Publications for SLC4A1 were set to Cryohydrocytosis PMID:16227998 (4 unrelated families); Ovalocytosis, SA type PMID:
Set Mode of Inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for SLC4A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for SLC4A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for SLC4A1 were set to Haemolytic Anemia; RBC membrane abnormality; Cryohydrocytosis,185020; Ovalocytosis, 166900; Spherocytosis, 612653
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for SLC4A1 were set to Haemolytic Anemia;RBC membrane abnormality; Cryohydrocytosis,185020;Ovalocytosis, 166900; Spherocytosis 612653
Added New Source
Louise Daugherty (Genomics England Curator)SLC4A1 was added to Cytopaenias and congenital anaemiaspanel. Sources: Illumina TruGenome Clinical Sequencing Services
Created
Louise Daugherty (Genomics England Curator)SLC4A1 was created by LouiseD