Cytopenias and congenital anaemias
Gene: SLC4A1Comment 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.
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
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for SLC4A1 were set to 16227998;8608262;7949112;2146504;1722314;8471774;8282779;8547122
Publications for SLC4A1 were set to Cryohydrocytosis PMID:16227998 (4 unrelated families); Ovalocytosis, SA type PMID:
Mode of inheritance for SLC4A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mode of inheritance for SLC4A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for SLC4A1 were set to Haemolytic Anemia; RBC membrane abnormality; Cryohydrocytosis,185020; Ovalocytosis, SA type, 166900; Spherocytosis, type 4, 612653
Phenotypes for SLC4A1 were set to Haemolytic Anemia; RBC membrane abnormality; Cryohydrocytosis,185020; Ovalocytosis, 166900; Spherocytosis, 612653
Phenotypes for SLC4A1 were set to Haemolytic Anemia;RBC membrane abnormality; Cryohydrocytosis,185020;Ovalocytosis, 166900; Spherocytosis 612653
SLC4A1 was added to Cytopaenias and congenital anaemiaspanel. Sources: Illumina TruGenome Clinical Sequencing Services
SLC4A1 was created by LouiseD